Canonical Allele Identifier: CA1998791017

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108283364_108283365delinsTC , CM000673.2:g.108283364_108283365delinsTC	GRCh38
NC_000011.9:g.108154091_108154092delinsTC , CM000673.1:g.108154091_108154092delinsTC	GRCh37
NC_000011.8:g.107659301_107659302delinsTC	NCBI36
NG_009830.1:g.65533_65534delinsTC , LRG_135:g.65533_65534delinsTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.3746+485_3746+486delinsTC	ENSP00000388058.2:n.3746+485_3746+486delinsTC
ENST00000713593.1:c.*3217+485_*3217+486delinsTC	ENSP00000518889.1:n.*3217+485_*3217+486delinsTC
ENST00000278616.9:c.3746+485_3746+486delinsTC	ENSP00000278616.4:n.3746+485_3746+486delinsTC
ENST00000682289.1:n.93+485_93+486delinsTC
ENST00000683174.1:n.3896+485_3896+486delinsTC
ENST00000527805.6:c.3746+485_3746+486delinsTC	ENSP00000435747.2:n.3746+485_3746+486delinsTC
ENST00000675595.1:c.3581+485_3581+486delinsTC	ENSP00000502563.1:n.3581+485_3581+486delinsTC
ENST00000675843.1:c.3746+485_3746+486delinsTC MANE Select	ENSP00000501606.1:n.3746+485_3746+486delinsTC
ENST00000278616.8:c.3746+485_3746+486delinsTC	ENSP00000278616.4:n.3746+485_3746+486delinsTC
ENST00000452508.6:c.3746+485_3746+486delinsTC	ENSP00000388058.2:n.3746+485_3746+486delinsTC
ENST00000527805.5:c.3746+485_3746+486delinsTC	ENSP00000435747.1:n.3746+485_3746+486delinsTC
NM_000051.3:c.3746+485_3746+486delinsTC , LRG_135t1:c.3746+485_3746+486delinsTC	NP_000042.3:n.3746+485_3746+486delinsTC
XM_005271561.3:c.3746+485_3746+486delinsTC	XP_005271618.2:n.3746+485_3746+486delinsTC
XM_005271562.3:c.3746+485_3746+486delinsTC	XP_005271619.2:n.3746+485_3746+486delinsTC
XM_006718843.2:c.3746+485_3746+486delinsTC	XP_006718906.1:n.3746+485_3746+486delinsTC
XM_011542840.1:c.3746+485_3746+486delinsTC	XP_011541142.1:n.3746+485_3746+486delinsTC
XM_011542841.1:c.3746+485_3746+486delinsTC	XP_011541143.1:n.3746+485_3746+486delinsTC
XM_011542842.1:c.3581+485_3581+486delinsTC	XP_011541144.1:n.3581+485_3581+486delinsTC
XM_011542843.1:c.3746+485_3746+486delinsTC	XP_011541145.1:n.3746+485_3746+486delinsTC
XM_011542844.1:c.2702+485_2702+486delinsTC	XP_011541146.1:n.2702+485_2702+486delinsTC
XM_011542845.1:c.2438+485_2438+486delinsTC	XP_011541147.1:n.2438+485_2438+486delinsTC
XM_011542846.1:c.3746+485_3746+486delinsTC	XP_011541148.1:n.3746+485_3746+486delinsTC
NM_001351834.1:c.3746+485_3746+486delinsTC	NP_001338763.1:n.3746+485_3746+486delinsTC
XM_005271562.5:c.3746+485_3746+486delinsTC	XP_005271619.2:n.3746+485_3746+486delinsTC
XM_006718843.4:c.3746+485_3746+486delinsTC	XP_006718906.1:n.3746+485_3746+486delinsTC
XM_011542840.3:c.3746+485_3746+486delinsTC	XP_011541142.1:n.3746+485_3746+486delinsTC
XM_011542842.3:c.3581+485_3581+486delinsTC	XP_011541144.1:n.3581+485_3581+486delinsTC
XM_011542843.2:c.3746+485_3746+486delinsTC	XP_011541145.1:n.3746+485_3746+486delinsTC
XM_011542844.3:c.2702+485_2702+486delinsTC	XP_011541146.1:n.2702+485_2702+486delinsTC
XM_011542845.2:c.2438+485_2438+486delinsTC	XP_011541147.1:n.2438+485_2438+486delinsTC
XM_017017789.2:c.3746+485_3746+486delinsTC	XP_016873278.1:n.3746+485_3746+486delinsTC
XM_017017790.2:c.3746+485_3746+486delinsTC	XP_016873279.1:n.3746+485_3746+486delinsTC
XM_017017791.1:c.3746+485_3746+486delinsTC	XP_016873280.1:n.3746+485_3746+486delinsTC
XM_017017792.2:c.3746+485_3746+486delinsTC	XP_016873281.1:n.3746+485_3746+486delinsTC
XR_002957150.1:n.4479+485_4479+486delinsTC
NM_001351834.2:c.3746+485_3746+486delinsTC	NP_001338763.1:n.3746+485_3746+486delinsTC
NM_000051.4:c.3746+485_3746+486delinsTC MANE Select	NP_000042.3:n.3746+485_3746+486delinsTC