Canonical Allele Identifier: CA942021258

Gene: ATM

Linked Data

• gnomAD v3: 11-108243953-A-ATTTT
• gnomAD v4: 11-108243953-A-ATTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108243953_108243954insTTTT , CM000673.2:g.108243953_108243954insTTTT	GRCh38
NC_000011.9:g.108114680_108114681insTTTT , CM000673.1:g.108114680_108114681insTTTT	GRCh37
NC_000011.8:g.107619890_107619891insTTTT	NCBI36
NG_009830.1:g.26122_26123insTTTT , LRG_135:g.26122_26123insTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.497_498insTTTT	ENSP00000388058.2:p.Glu166AspfsTer20
ENST00000713593.1:c.497-22_497-21insTTTT	ENSP00000518889.1:n.497-22_497-21insTTTT
ENST00000278616.9:c.497_498insTTTT	ENSP00000278616.4:p.Glu166AspfsTer20
ENST00000682430.1:n.596_597insTTTT
ENST00000682516.1:n.631_632insTTTT
ENST00000682956.1:n.631_632insTTTT
ENST00000683100.1:n.2175_2176insTTTT
ENST00000683174.1:n.647_648insTTTT
ENST00000684037.1:c.497_498insTTTT	ENSP00000508245.1:p.Glu166AspfsTer20
ENST00000684061.1:n.631_632insTTTT
ENST00000684179.1:n.466_467insTTTT
ENST00000527805.6:c.497_498insTTTT	ENSP00000435747.2:p.Glu166AspfsTer20
ENST00000675595.1:c.332_333insTTTT	ENSP00000502563.1:p.Lys111AsnfsTer20
ENST00000675843.1:c.497_498insTTTT MANE Select	ENSP00000501606.1:p.Glu166AspfsTer20
ENST00000278616.8:c.497_498insTTTT	ENSP00000278616.4:p.Glu166AspfsTer20
ENST00000452508.6:c.497_498insTTTT	ENSP00000388058.2:p.Glu166AspfsTer20
ENST00000527805.5:c.497_498insTTTT	ENSP00000435747.1:p.Glu166AspfsTer20
ENST00000527891.5:c.332_333insTTTT	ENSP00000433955.1:p.Lys111AsnfsTer20
NM_000051.3:c.497_498insTTTT , LRG_135t1:c.497_498insTTTT	NP_000042.3:p.Glu166AspfsTer20
XM_005271561.3:c.497_498insTTTT	XP_005271618.2:p.Glu166AspfsTer20
XM_005271562.3:c.497_498insTTTT	XP_005271619.2:p.Glu166AspfsTer20
XM_006718843.2:c.497_498insTTTT	XP_006718906.1:p.Glu166AspfsTer20
XM_011542840.1:c.497_498insTTTT	XP_011541142.1:p.Glu166AspfsTer20
XM_011542841.1:c.497_498insTTTT	XP_011541143.1:p.Glu166AspfsTer20
XM_011542842.1:c.332_333insTTTT	XP_011541144.1:p.Lys111AsnfsTer20
XM_011542843.1:c.497_498insTTTT	XP_011541145.1:p.Glu166AspfsTer20
XM_011542844.1:c.-526-22_-526-21insTTTT	XP_011541146.1:n.-526-22_-526-21insTTTT
XM_011542846.1:c.497_498insTTTT	XP_011541148.1:p.Glu166AspfsTer20
NM_001351834.1:c.497_498insTTTT	NP_001338763.1:p.Glu166AspfsTer20
XM_005271562.5:c.497_498insTTTT	XP_005271619.2:p.Glu166AspfsTer20
XM_006718843.4:c.497_498insTTTT	XP_006718906.1:p.Glu166AspfsTer20
XM_011542840.3:c.497_498insTTTT	XP_011541142.1:p.Glu166AspfsTer20
XM_011542842.3:c.332_333insTTTT	XP_011541144.1:p.Lys111AsnfsTer20
XM_011542843.2:c.497_498insTTTT	XP_011541145.1:p.Glu166AspfsTer20
XM_011542844.3:c.-526-22_-526-21insTTTT	XP_011541146.1:n.-526-22_-526-21insTTTT
XM_017017789.2:c.497_498insTTTT	XP_016873278.1:p.Glu166AspfsTer20
XM_017017790.2:c.497_498insTTTT	XP_016873279.1:p.Glu166AspfsTer20
XM_017017791.1:c.497_498insTTTT	XP_016873280.1:p.Glu166AspfsTer20
XM_017017792.2:c.497_498insTTTT	XP_016873281.1:p.Glu166AspfsTer20
XR_002957150.1:n.1230_1231insTTTT
NM_001351834.2:c.497_498insTTTT	NP_001338763.1:p.Glu166AspfsTer20
NM_000051.4:c.497_498insTTTT MANE Select	NP_000042.3:p.Glu166AspfsTer20