Canonical Allele Identifier: CA942013109

Gene: ATM

Linked Data

• gnomAD v3: 11-108250712-C-CTTTTTTTTTTTTT
• gnomAD v4: 11-108250712-C-CTTTTTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108250712_108250713insTTTTTTTTTTTTT , CM000673.2:g.108250712_108250713insTTTTTTTTTTTTT	GRCh38
NC_000011.9:g.108121439_108121440insTTTTTTTTTTTTT , CM000673.1:g.108121439_108121440insTTTTTTTTTTTTT	GRCh37
NC_000011.8:g.107626649_107626650insTTTTTTTTTTTTT	NCBI36
NG_009830.1:g.32881_32882insTTTTTTTTTTTTT , LRG_135:g.32881_32882insTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.1247_1248insTTTTTTTTTTTTT	ENSP00000388058.2:p.Thr417PhefsTer17
ENST00000713593.1:c.*718_*719insTTTTTTTTTTTTT	ENSP00000518889.1:n.*718_*719insTTTTTTTTTTTTT
ENST00000278616.9:c.1247_1248insTTTTTTTTTTTTT	ENSP00000278616.4:p.Thr417PhefsTer17
ENST00000682516.1:n.1381_1382insTTTTTTTTTTTTT
ENST00000682956.1:n.1381_1382insTTTTTTTTTTTTT
ENST00000683174.1:n.1397_1398insTTTTTTTTTTTTT
ENST00000683605.1:n.742_743insTTTTTTTTTTTTT
ENST00000684037.1:c.*182_*183insTTTTTTTTTTTTT	ENSP00000508245.1:n.*182_*183insTTTTTTTTTTTTT
ENST00000684061.1:n.1381_1382insTTTTTTTTTTTTT
ENST00000684179.1:n.1216_1217insTTTTTTTTTTTTT
ENST00000527805.6:c.1247_1248insTTTTTTTTTTTTT	ENSP00000435747.2:p.Thr417PhefsTer17
ENST00000675595.1:c.1082_1083insTTTTTTTTTTTTT	ENSP00000502563.1:p.Thr362PhefsTer17
ENST00000675843.1:c.1247_1248insTTTTTTTTTTTTT MANE Select	ENSP00000501606.1:p.Thr417PhefsTer17
ENST00000278616.8:c.1247_1248insTTTTTTTTTTTTT	ENSP00000278616.4:p.Thr417PhefsTer17
ENST00000452508.6:c.1247_1248insTTTTTTTTTTTTT	ENSP00000388058.2:p.Thr417PhefsTer17
ENST00000527805.5:c.1247_1248insTTTTTTTTTTTTT	ENSP00000435747.1:p.Thr417PhefsTer17
NM_000051.3:c.1247_1248insTTTTTTTTTTTTT , LRG_135t1:c.1247_1248insTTTTTTTTTTTTT	NP_000042.3:p.Thr417PhefsTer17
XM_005271561.3:c.1247_1248insTTTTTTTTTTTTT	XP_005271618.2:p.Thr417PhefsTer17
XM_005271562.3:c.1247_1248insTTTTTTTTTTTTT	XP_005271619.2:p.Thr417PhefsTer17
XM_006718843.2:c.1247_1248insTTTTTTTTTTTTT	XP_006718906.1:p.Thr417PhefsTer17
XM_011542840.1:c.1247_1248insTTTTTTTTTTTTT	XP_011541142.1:p.Thr417PhefsTer17
XM_011542841.1:c.1247_1248insTTTTTTTTTTTTT	XP_011541143.1:p.Thr417PhefsTer17
XM_011542842.1:c.1082_1083insTTTTTTTTTTTTT	XP_011541144.1:p.Thr362PhefsTer17
XM_011542843.1:c.1247_1248insTTTTTTTTTTTTT	XP_011541145.1:p.Thr417PhefsTer17
XM_011542844.1:c.203_204insTTTTTTTTTTTTT	XP_011541146.1:p.Thr69PhefsTer17
XM_011542845.1:c.-62_-61insTTTTTTTTTTTTT	XP_011541147.1:n.-62_-61insTTTTTTTTTTTTT
XM_011542846.1:c.1247_1248insTTTTTTTTTTTTT	XP_011541148.1:p.Thr417PhefsTer17
NM_001351834.1:c.1247_1248insTTTTTTTTTTTTT	NP_001338763.1:p.Thr417PhefsTer17
XM_005271562.5:c.1247_1248insTTTTTTTTTTTTT	XP_005271619.2:p.Thr417PhefsTer17
XM_006718843.4:c.1247_1248insTTTTTTTTTTTTT	XP_006718906.1:p.Thr417PhefsTer17
XM_011542840.3:c.1247_1248insTTTTTTTTTTTTT	XP_011541142.1:p.Thr417PhefsTer17
XM_011542842.3:c.1082_1083insTTTTTTTTTTTTT	XP_011541144.1:p.Thr362PhefsTer17
XM_011542843.2:c.1247_1248insTTTTTTTTTTTTT	XP_011541145.1:p.Thr417PhefsTer17
XM_011542844.3:c.203_204insTTTTTTTTTTTTT	XP_011541146.1:p.Thr69PhefsTer17
XM_011542845.2:c.-62_-61insTTTTTTTTTTTTT	XP_011541147.1:n.-62_-61insTTTTTTTTTTTTT
XM_017017789.2:c.1247_1248insTTTTTTTTTTTTT	XP_016873278.1:p.Thr417PhefsTer17
XM_017017790.2:c.1247_1248insTTTTTTTTTTTTT	XP_016873279.1:p.Thr417PhefsTer17
XM_017017791.1:c.1247_1248insTTTTTTTTTTTTT	XP_016873280.1:p.Thr417PhefsTer17
XM_017017792.2:c.1247_1248insTTTTTTTTTTTTT	XP_016873281.1:p.Thr417PhefsTer17
XR_002957150.1:n.1980_1981insTTTTTTTTTTTTT
NM_001351834.2:c.1247_1248insTTTTTTTTTTTTT	NP_001338763.1:p.Thr417PhefsTer17
NM_000051.4:c.1247_1248insTTTTTTTTTTTTT MANE Select	NP_000042.3:p.Thr417PhefsTer17