Canonical Allele Identifier: CA2615846108

Gene: ATM

Linked Data

• gnomAD v4: 11-108247028-GAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108247030_108247031del , CM000673.2:g.108247030_108247031del	GRCh38
NC_000011.9:g.108117757_108117758del , CM000673.1:g.108117757_108117758del	GRCh37
NC_000011.8:g.107622967_107622968del	NCBI36
NG_009830.1:g.29199_29200del , LRG_135:g.29199_29200del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.968_969del	ENSP00000388058.2:p.Ile323LysfsTer6
ENST00000713593.1:c.*439_*440del	ENSP00000518889.1:n.*439_*440del
ENST00000278616.9:c.968_969del	ENSP00000278616.4:p.Ile323LysfsTer6
ENST00000682516.1:n.1102_1103del
ENST00000682956.1:n.1102_1103del
ENST00000683100.1:n.3315_3316del
ENST00000683174.1:n.1118_1119del
ENST00000683605.1:n.463_464del
ENST00000684037.1:c.968_969del	ENSP00000508245.1:p.Ile323LysfsTer6
ENST00000684061.1:n.1102_1103del
ENST00000684179.1:n.937_938del
ENST00000527805.6:c.968_969del	ENSP00000435747.2:p.Ile323LysfsTer6
ENST00000675595.1:c.803_804del	ENSP00000502563.1:p.Ile268LysfsTer6
ENST00000675843.1:c.968_969del MANE Select	ENSP00000501606.1:p.Ile323LysfsTer6
ENST00000278616.8:c.968_969del	ENSP00000278616.4:p.Ile323LysfsTer6
ENST00000452508.6:c.968_969del	ENSP00000388058.2:p.Ile323LysfsTer6
ENST00000527805.5:c.968_969del	ENSP00000435747.1:p.Ile323LysfsTer6
NM_000051.3:c.968_969del , LRG_135t1:c.968_969del	NP_000042.3:p.Ile323LysfsTer6
XM_005271561.3:c.968_969del	XP_005271618.2:p.Ile323LysfsTer6
XM_005271562.3:c.968_969del	XP_005271619.2:p.Ile323LysfsTer6
XM_006718843.2:c.968_969del	XP_006718906.1:p.Ile323LysfsTer6
XM_011542840.1:c.968_969del	XP_011541142.1:p.Ile323LysfsTer6
XM_011542841.1:c.968_969del	XP_011541143.1:p.Ile323LysfsTer6
XM_011542842.1:c.803_804del	XP_011541144.1:p.Ile268LysfsTer6
XM_011542843.1:c.968_969del	XP_011541145.1:p.Ile323LysfsTer6
XM_011542844.1:c.-77_-76del	XP_011541146.1:n.-77_-76del
XM_011542846.1:c.968_969del	XP_011541148.1:p.Ile323LysfsTer6
NM_001351834.1:c.968_969del	NP_001338763.1:p.Ile323LysfsTer6
XM_005271562.5:c.968_969del	XP_005271619.2:p.Ile323LysfsTer6
XM_006718843.4:c.968_969del	XP_006718906.1:p.Ile323LysfsTer6
XM_011542840.3:c.968_969del	XP_011541142.1:p.Ile323LysfsTer6
XM_011542842.3:c.803_804del	XP_011541144.1:p.Ile268LysfsTer6
XM_011542843.2:c.968_969del	XP_011541145.1:p.Ile323LysfsTer6
XM_011542844.3:c.-77_-76del	XP_011541146.1:n.-77_-76del
XM_017017789.2:c.968_969del	XP_016873278.1:p.Ile323LysfsTer6
XM_017017790.2:c.968_969del	XP_016873279.1:p.Ile323LysfsTer6
XM_017017791.1:c.968_969del	XP_016873280.1:p.Ile323LysfsTer6
XM_017017792.2:c.968_969del	XP_016873281.1:p.Ile323LysfsTer6
XR_002957150.1:n.1701_1702del
NM_001351834.2:c.968_969del	NP_001338763.1:p.Ile323LysfsTer6
NM_000051.4:c.968_969del MANE Select	NP_000042.3:p.Ile323LysfsTer6