Canonical Allele Identifier: CA1998770827

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108250809_108250810delinsTG , CM000673.2:g.108250809_108250810delinsTG	GRCh38
NC_000011.9:g.108121536_108121537delinsTG , CM000673.1:g.108121536_108121537delinsTG	GRCh37
NC_000011.8:g.107626746_107626747delinsTG	NCBI36
NG_009830.1:g.32978_32979delinsTG , LRG_135:g.32978_32979delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.1344_1345delinsTG	ENSP00000388058.2:p.His448=
ENST00000713593.1:c.*815_*816delinsTG	ENSP00000518889.1:n.*815_*816delinsTG
ENST00000278616.9:c.1344_1345delinsTG	ENSP00000278616.4:p.His448=
ENST00000682516.1:n.1478_1479delinsTG
ENST00000682956.1:n.1478_1479delinsTG
ENST00000683174.1:n.1494_1495delinsTG
ENST00000683605.1:n.839_840delinsTG
ENST00000684037.1:c.*279_*280delinsTG	ENSP00000508245.1:n.*279_*280delinsTG
ENST00000684061.1:n.1478_1479delinsTG
ENST00000684179.1:n.1313_1314delinsTG
ENST00000527805.6:c.1344_1345delinsTG	ENSP00000435747.2:p.His448=
ENST00000675595.1:c.1179_1180delinsTG	ENSP00000502563.1:p.His393=
ENST00000675843.1:c.1344_1345delinsTG MANE Select	ENSP00000501606.1:p.His448=
ENST00000278616.8:c.1344_1345delinsTG	ENSP00000278616.4:p.His448=
ENST00000452508.6:c.1344_1345delinsTG	ENSP00000388058.2:p.His448=
ENST00000527805.5:c.1344_1345delinsTG	ENSP00000435747.1:p.His448=
NM_000051.3:c.1344_1345delinsTG , LRG_135t1:c.1344_1345delinsTG	NP_000042.3:p.His448=
XM_005271561.3:c.1344_1345delinsTG	XP_005271618.2:p.His448=
XM_005271562.3:c.1344_1345delinsTG	XP_005271619.2:p.His448=
XM_006718843.2:c.1344_1345delinsTG	XP_006718906.1:p.His448=
XM_011542840.1:c.1344_1345delinsTG	XP_011541142.1:p.His448=
XM_011542841.1:c.1344_1345delinsTG	XP_011541143.1:p.His448=
XM_011542842.1:c.1179_1180delinsTG	XP_011541144.1:p.His393=
XM_011542843.1:c.1344_1345delinsTG	XP_011541145.1:p.His448=
XM_011542844.1:c.300_301delinsTG	XP_011541146.1:p.His100=
XM_011542845.1:c.36_37delinsTG	XP_011541147.1:p.His12=
XM_011542846.1:c.1344_1345delinsTG	XP_011541148.1:p.His448=
NM_001351834.1:c.1344_1345delinsTG	NP_001338763.1:p.His448=
XM_005271562.5:c.1344_1345delinsTG	XP_005271619.2:p.His448=
XM_006718843.4:c.1344_1345delinsTG	XP_006718906.1:p.His448=
XM_011542840.3:c.1344_1345delinsTG	XP_011541142.1:p.His448=
XM_011542842.3:c.1179_1180delinsTG	XP_011541144.1:p.His393=
XM_011542843.2:c.1344_1345delinsTG	XP_011541145.1:p.His448=
XM_011542844.3:c.300_301delinsTG	XP_011541146.1:p.His100=
XM_011542845.2:c.36_37delinsTG	XP_011541147.1:p.His12=
XM_017017789.2:c.1344_1345delinsTG	XP_016873278.1:p.His448=
XM_017017790.2:c.1344_1345delinsTG	XP_016873279.1:p.His448=
XM_017017791.1:c.1344_1345delinsTG	XP_016873280.1:p.His448=
XM_017017792.2:c.1344_1345delinsTG	XP_016873281.1:p.His448=
XR_002957150.1:n.2077_2078delinsTG
NM_001351834.2:c.1344_1345delinsTG	NP_001338763.1:p.His448=
NM_000051.4:c.1344_1345delinsTG MANE Select	NP_000042.3:p.His448=