Canonical Allele Identifier: CA1998758049
Gene: ATM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108223103_108223104delinsGC , CM000673.2:g.108223103_108223104delinsGC GRCh38
NC_000011.9:g.108093830_108093831delinsGC , CM000673.1:g.108093830_108093831delinsGC GRCh37
NC_000011.8:g.107599040_107599041delinsGC NCBI36
NG_009830.1:g.5272_5273delinsGC , LRG_135:g.5272_5273delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.-202_-201delinsGC ENSP00000388058.2:n.-202_-201delinsGC
ENST00000683914.2:c.-114_-113delinsGC ENSP00000507649.1:n.-114_-113delinsGC
ENST00000713593.1:c.-114_-113delinsGC ENSP00000518889.1:n.-114_-113delinsGC
ENST00000683174.1:n.37_38delinsGC
ENST00000683468.1:c.-4522_-4521delinsGC ENSP00000508178.1:n.-4522_-4521delinsGC
ENST00000683488.1:n.60_61delinsGC
ENST00000527805.6:c.-114_-113delinsGC ENSP00000435747.2:n.-114_-113delinsGC
ENST00000675595.1:c.-114_-113delinsGC ENSP00000502563.1:n.-114_-113delinsGC
ENST00000675843.1:c.-114_-113delinsGC MANE Select ENSP00000501606.1:n.-114_-113delinsGC
ENST00000278616.8:c.-114_-113delinsGC ENSP00000278616.4:n.-114_-113delinsGC
ENST00000527805.5:c.-114_-113delinsGC ENSP00000435747.1:n.-114_-113delinsGC
ENST00000527891.5:c.-114_-113delinsGC ENSP00000433955.1:n.-114_-113delinsGC
ENST00000530958.5:c.-4522_-4521delinsGC ENSP00000483338.1:n.-4522_-4521delinsGC
ENST00000532931.5:c.-188_-187delinsGC ENSP00000432318.1:n.-188_-187delinsGC
NM_000051.3:c.-114_-113delinsGC , LRG_135t1:c.-114_-113delinsGC NP_000042.3:n.-114_-113delinsGC
XM_005271561.3:c.-202_-201delinsGC XP_005271618.2:n.-202_-201delinsGC
XM_011542841.1:c.-905_-904delinsGC XP_011541143.1:n.-905_-904delinsGC
XM_011542842.1:c.-114_-113delinsGC XP_011541144.1:n.-114_-113delinsGC
XM_011542843.1:c.-114_-113delinsGC XP_011541145.1:n.-114_-113delinsGC
XM_011542846.1:c.-114_-113delinsGC XP_011541148.1:n.-114_-113delinsGC
NM_001351834.1:c.-202_-201delinsGC NP_001338763.1:n.-202_-201delinsGC
NM_001351835.1:c.-114_-113delinsGC NP_001338764.1:n.-114_-113delinsGC
XM_011542842.3:c.-114_-113delinsGC XP_011541144.1:n.-114_-113delinsGC
XM_011542843.2:c.-114_-113delinsGC XP_011541145.1:n.-114_-113delinsGC
XM_011542844.3:c.-1136_-1135delinsGC XP_011541146.1:n.-1136_-1135delinsGC
XM_017017791.1:c.-114_-113delinsGC XP_016873280.1:n.-114_-113delinsGC
XM_017017792.2:c.-114_-113delinsGC XP_016873281.1:n.-114_-113delinsGC
XR_002957150.1:n.620_621delinsGC
NM_001351834.2:c.-202_-201delinsGC NP_001338763.1:n.-202_-201delinsGC
NM_000051.4:c.-114_-113delinsGC MANE Select NP_000042.3:n.-114_-113delinsGC
NM_001351835.2:c.-114_-113delinsGC NP_001338764.1:n.-114_-113delinsGC