Canonical Allele Identifier: CA2650698
Gene: ATR HGNC NCBI

Linked Data

ClinVar Variation Id: 916471
ClinVar RCV Id: RCV001172155
dbSNP Id: rs773937499

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.142562425_142562426del , CM000665.2:g.142562425_142562426del GRCh38
NC_000003.11:g.142281267_142281268del , CM000665.1:g.142281267_142281268del GRCh37
NC_000003.10:g.143763957_143763958del NCBI36
NG_008951.1:g.21404_21405del

Transcript Alleles

HGVS Amino-acid Change
ENST00000350721.9:c.979_980del MANE Select ENSP00000343741.4:p.Val327HisfsTer3
ENST00000515149.3:c.293-1002_293-1001del ENSP00000425897.3:n.293-1002_293-1001del
ENST00000653868.1:n.1008_1009del
ENST00000657914.1:n.3337_3338del
ENST00000659195.1:n.3044_3045del
ENST00000661310.1:c.979_980del ENSP00000499589.1:p.Val327HisfsTer3
ENST00000350721.8:c.979_980del ENSP00000343741.4:p.Val327HisfsTer3
ENST00000507148.1:c.293-75_293-74del ENSP00000426595.1:n.293-75_293-74del
ENST00000515149.2:c.22_23del ENSP00000425897.2:p.Val8HisfsTer3
NM_001184.3:c.979_980del NP_001175.2:p.Val327HisfsTer3
XM_011512924.1:c.979_980del XP_011511226.1:p.Val327HisfsTer3
XM_011512925.1:c.979_980del XP_011511227.1:p.Val327HisfsTer3
XM_011512926.1:c.979_980del XP_011511228.1:p.Val327HisfsTer3
XM_011512927.1:c.979_980del XP_011511229.1:p.Val327HisfsTer3
XR_924147.1:n.1068_1069del
XR_924148.1:n.1068_1069del
XR_924149.1:n.1068_1069del
NM_001354579.1:c.979_980del NP_001341508.1:p.Val327HisfsTer3
XR_001740179.2:n.1068_1069del
XR_001740180.2:n.1068_1069del
XR_001740181.2:n.1068_1069del
XR_001740182.1:n.1068_1069del
XR_002959543.1:n.1068_1069del
XR_924148.2:n.1068_1069del
NM_001184.4:c.979_980del MANE Select NP_001175.2:p.Val327HisfsTer3
NM_001354579.2:c.979_980del NP_001341508.1:p.Val327HisfsTer3