Canonical Allele Identifier: CA1998803695

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108307966_108307967delinsAC , CM000673.2:g.108307966_108307967delinsAC	GRCh38
NC_000011.9:g.108178693_108178694delinsAC , CM000673.1:g.108178693_108178694delinsAC	GRCh37
NC_000011.8:g.107683903_107683904delinsAC	NCBI36
NG_009830.1:g.90135_90136delinsAC , LRG_135:g.90135_90136delinsAC
NG_054724.1:g.166866_166867delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5744_5745delinsAC	ENSP00000388058.2:p.Tyr1915=
ENST00000713593.1:c.*5215_*5216delinsAC	ENSP00000518889.1:n.*5215_*5216delinsAC
ENST00000278616.9:c.5744_5745delinsAC	ENSP00000278616.4:p.Tyr1915=
ENST00000525056.2:n.163_164delinsAC
ENST00000682286.1:n.501_502delinsAC
ENST00000682302.1:n.162_163delinsAC
ENST00000683174.1:n.7228_7229delinsAC
ENST00000683524.1:n.968_969delinsAC
ENST00000684152.1:n.1458_1459delinsAC
ENST00000527805.6:c.*808_*809delinsAC	ENSP00000435747.2:n.*808_*809delinsAC
ENST00000675595.1:c.*808_*809delinsAC	ENSP00000502563.1:n.*808_*809delinsAC
ENST00000675843.1:c.5744_5745delinsAC MANE Select	ENSP00000501606.1:p.Tyr1915=
ENST00000278616.8:c.5744_5745delinsAC	ENSP00000278616.4:p.Tyr1915=
ENST00000452508.6:c.5744_5745delinsAC	ENSP00000388058.2:p.Tyr1915=
ENST00000524792.5:n.1959_1960delinsAC
ENST00000529588.5:c.187-2194_187-2193delinsAC
ENST00000533690.5:n.1148_1149delinsAC
NM_000051.3:c.5744_5745delinsAC , LRG_135t1:c.5744_5745delinsAC	NP_000042.3:p.Tyr1915=
XM_005271561.3:c.5744_5745delinsAC	XP_005271618.2:p.Tyr1915=
XM_005271562.3:c.5744_5745delinsAC	XP_005271619.2:p.Tyr1915=
XM_006718843.2:c.5744_5745delinsAC	XP_006718906.1:p.Tyr1915=
XM_006718845.1:c.1700_1701delinsAC	XP_006718908.1:p.Tyr567=
XM_011542840.1:c.5744_5745delinsAC	XP_011541142.1:p.Tyr1915=
XM_011542841.1:c.5744_5745delinsAC	XP_011541143.1:p.Tyr1915=
XM_011542842.1:c.5579_5580delinsAC	XP_011541144.1:p.Tyr1860=
XM_011542843.1:c.5744_5745delinsAC	XP_011541145.1:p.Tyr1915=
XM_011542844.1:c.4700_4701delinsAC	XP_011541146.1:p.Tyr1567=
XM_011542845.1:c.4436_4437delinsAC	XP_011541147.1:p.Tyr1479=
XM_011542847.1:c.815_816delinsAC	XP_011541149.1:p.Tyr272=
NM_001351834.1:c.5744_5745delinsAC	NP_001338763.1:p.Tyr1915=
XM_005271562.5:c.5744_5745delinsAC	XP_005271619.2:p.Tyr1915=
XM_006718843.4:c.5744_5745delinsAC	XP_006718906.1:p.Tyr1915=
XM_006718845.2:c.1700_1701delinsAC	XP_006718908.1:p.Tyr567=
XM_011542840.3:c.5744_5745delinsAC	XP_011541142.1:p.Tyr1915=
XM_011542842.3:c.5579_5580delinsAC	XP_011541144.1:p.Tyr1860=
XM_011542843.2:c.5744_5745delinsAC	XP_011541145.1:p.Tyr1915=
XM_011542844.3:c.4700_4701delinsAC	XP_011541146.1:p.Tyr1567=
XM_011542845.2:c.4436_4437delinsAC	XP_011541147.1:p.Tyr1479=
XM_017017789.2:c.5744_5745delinsAC	XP_016873278.1:p.Tyr1915=
XM_017017790.2:c.5744_5745delinsAC	XP_016873279.1:p.Tyr1915=
XM_017017791.1:c.5744_5745delinsAC	XP_016873280.1:p.Tyr1915=
XR_002957150.1:n.6344_6345delinsAC
NM_001351834.2:c.5744_5745delinsAC	NP_001338763.1:p.Tyr1915=
NM_000051.4:c.5744_5745delinsAC MANE Select	NP_000042.3:p.Tyr1915=