chr11:108320021:GA> Detail (hg38) (ATM, C11orf65)

Information

Genome

Assembly Position
hg19 chr11:108,190,748-108,190,749 
hg38 chr11:108,320,021-108,320,022

HGVS

Type Transcript Protein
RefSeq NM_000051.3:c.6415_6416delGA NP_000042.3:p.Glu2139IlefsTer6
NM_001351834.1:c.6415_6416delGA NP_001338763.1:p.Glu2139IlefsTer6
Ensemble ENST00000278616.10:c.6415_6416delGA ENST00000278616.10:p.Glu2139IlefsTer6
Type Transcript Protein
RefSeq NM_001330368.1:c.641-10951_641-10950delTC
Ensemble ENST00000525729.5:c.641-10951_641-10950delTC
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 607585 OMIM
HGNC 795 HGNC
Ensembl ENSG00000149311 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM922735 COSMIC
MONDO
Type Database ID Link
Gene MIM
HGNC 28519 HGNC
Ensembl ENSG00000166323 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM922735 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.709 ataxia telangiectasia NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs863225466 dbSNP
Genome
hg38
Position
chr11:108,320,021-108,320,022
Variant Type
snv
Reference Allele
GA
Alternative Allele
-
Genome browser