Canonical Allele Identifier: CA1998783324
Gene: ATM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108267327_108267328delinsAG , CM000673.2:g.108267327_108267328delinsAG GRCh38
NC_000011.9:g.108138054_108138055delinsAG , CM000673.1:g.108138054_108138055delinsAG GRCh37
NC_000011.8:g.107643264_107643265delinsAG NCBI36
NG_009830.1:g.49496_49497delinsAG , LRG_135:g.49496_49497delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.2623_2624delinsAG ENSP00000388058.2:p.Ser875=
ENST00000713593.1:c.*2094_*2095delinsAG ENSP00000518889.1:n.*2094_*2095delinsAG
ENST00000278616.9:c.2623_2624delinsAG ENSP00000278616.4:p.Ser875=
ENST00000682516.1:n.2757_2758delinsAG
ENST00000683174.1:n.2773_2774delinsAG
ENST00000683605.1:n.2118_2119delinsAG
ENST00000684037.1:c.*1558_*1559delinsAG ENSP00000508245.1:n.*1558_*1559delinsAG
ENST00000527805.6:c.2623_2624delinsAG ENSP00000435747.2:p.Ser875=
ENST00000675595.1:c.2458_2459delinsAG ENSP00000502563.1:p.Ser820=
ENST00000675843.1:c.2623_2624delinsAG MANE Select ENSP00000501606.1:p.Ser875=
ENST00000278616.8:c.2623_2624delinsAG ENSP00000278616.4:p.Ser875=
ENST00000452508.6:c.2623_2624delinsAG ENSP00000388058.2:p.Ser875=
ENST00000527805.5:c.2623_2624delinsAG ENSP00000435747.1:p.Ser875=
NM_000051.3:c.2623_2624delinsAG , LRG_135t1:c.2623_2624delinsAG NP_000042.3:p.Ser875=
XM_005271561.3:c.2623_2624delinsAG XP_005271618.2:p.Ser875=
XM_005271562.3:c.2623_2624delinsAG XP_005271619.2:p.Ser875=
XM_006718843.2:c.2623_2624delinsAG XP_006718906.1:p.Ser875=
XM_011542840.1:c.2623_2624delinsAG XP_011541142.1:p.Ser875=
XM_011542841.1:c.2623_2624delinsAG XP_011541143.1:p.Ser875=
XM_011542842.1:c.2458_2459delinsAG XP_011541144.1:p.Ser820=
XM_011542843.1:c.2623_2624delinsAG XP_011541145.1:p.Ser875=
XM_011542844.1:c.1579_1580delinsAG XP_011541146.1:p.Ser527=
XM_011542845.1:c.1315_1316delinsAG XP_011541147.1:p.Ser439=
XM_011542846.1:c.2623_2624delinsAG XP_011541148.1:p.Ser875=
NM_001351834.1:c.2623_2624delinsAG NP_001338763.1:p.Ser875=
XM_005271562.5:c.2623_2624delinsAG XP_005271619.2:p.Ser875=
XM_006718843.4:c.2623_2624delinsAG XP_006718906.1:p.Ser875=
XM_011542840.3:c.2623_2624delinsAG XP_011541142.1:p.Ser875=
XM_011542842.3:c.2458_2459delinsAG XP_011541144.1:p.Ser820=
XM_011542843.2:c.2623_2624delinsAG XP_011541145.1:p.Ser875=
XM_011542844.3:c.1579_1580delinsAG XP_011541146.1:p.Ser527=
XM_011542845.2:c.1315_1316delinsAG XP_011541147.1:p.Ser439=
XM_017017789.2:c.2623_2624delinsAG XP_016873278.1:p.Ser875=
XM_017017790.2:c.2623_2624delinsAG XP_016873279.1:p.Ser875=
XM_017017791.1:c.2623_2624delinsAG XP_016873280.1:p.Ser875=
XM_017017792.2:c.2623_2624delinsAG XP_016873281.1:p.Ser875=
XR_002957150.1:n.3356_3357delinsAG
NM_001351834.2:c.2623_2624delinsAG NP_001338763.1:p.Ser875=
NM_000051.4:c.2623_2624delinsAG MANE Select NP_000042.3:p.Ser875=