Canonical Allele Identifier: CA2581463486

Gene: ATM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108307982_108307983insT , CM000673.2:g.108307982_108307983insT	GRCh38
NC_000011.9:g.108178709_108178710insT , CM000673.1:g.108178709_108178710insT	GRCh37
NC_000011.8:g.107683919_107683920insT	NCBI36
NG_009830.1:g.90151_90152insT , LRG_135:g.90151_90152insT
NG_054724.1:g.166850_166851insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5760_5761insT	ENSP00000388058.2:p.Arg1921Ter
ENST00000713593.1:c.*5231_*5232insT	ENSP00000518889.1:n.*5231_*5232insT
ENST00000278616.9:c.5760_5761insT	ENSP00000278616.4:p.Arg1921Ter
ENST00000525056.2:n.179_180insT
ENST00000682286.1:n.517_518insT
ENST00000682302.1:n.178_179insT
ENST00000683174.1:n.7244_7245insT
ENST00000683524.1:n.984_985insT
ENST00000684152.1:n.1474_1475insT
ENST00000527805.6:c.*824_*825insT	ENSP00000435747.2:n.*824_*825insT
ENST00000675595.1:c.*824_*825insT	ENSP00000502563.1:n.*824_*825insT
ENST00000675843.1:c.5760_5761insT MANE Select	ENSP00000501606.1:p.Arg1921Ter
ENST00000278616.8:c.5760_5761insT	ENSP00000278616.4:p.Arg1921Ter
ENST00000452508.6:c.5760_5761insT	ENSP00000388058.2:p.Arg1921Ter
ENST00000524792.5:n.1975_1976insT
ENST00000529588.5:c.187-2178_187-2177insT
ENST00000533690.5:n.1164_1165insT
NM_000051.3:c.5760_5761insT , LRG_135t1:c.5760_5761insT	NP_000042.3:p.Arg1921Ter
XM_005271561.3:c.5760_5761insT	XP_005271618.2:p.Arg1921Ter
XM_005271562.3:c.5760_5761insT	XP_005271619.2:p.Arg1921Ter
XM_006718843.2:c.5760_5761insT	XP_006718906.1:p.Arg1921Ter
XM_006718845.1:c.1716_1717insT	XP_006718908.1:p.Arg573Ter
XM_011542840.1:c.5760_5761insT	XP_011541142.1:p.Arg1921Ter
XM_011542841.1:c.5760_5761insT	XP_011541143.1:p.Arg1921Ter
XM_011542842.1:c.5595_5596insT	XP_011541144.1:p.Arg1866Ter
XM_011542843.1:c.5760_5761insT	XP_011541145.1:p.Arg1921Ter
XM_011542844.1:c.4716_4717insT	XP_011541146.1:p.Arg1573Ter
XM_011542845.1:c.4452_4453insT	XP_011541147.1:p.Arg1485Ter
XM_011542847.1:c.831_832insT	XP_011541149.1:p.Arg278Ter
NM_001351834.1:c.5760_5761insT	NP_001338763.1:p.Arg1921Ter
XM_005271562.5:c.5760_5761insT	XP_005271619.2:p.Arg1921Ter
XM_006718843.4:c.5760_5761insT	XP_006718906.1:p.Arg1921Ter
XM_006718845.2:c.1716_1717insT	XP_006718908.1:p.Arg573Ter
XM_011542840.3:c.5760_5761insT	XP_011541142.1:p.Arg1921Ter
XM_011542842.3:c.5595_5596insT	XP_011541144.1:p.Arg1866Ter
XM_011542843.2:c.5760_5761insT	XP_011541145.1:p.Arg1921Ter
XM_011542844.3:c.4716_4717insT	XP_011541146.1:p.Arg1573Ter
XM_011542845.2:c.4452_4453insT	XP_011541147.1:p.Arg1485Ter
XM_017017789.2:c.5760_5761insT	XP_016873278.1:p.Arg1921Ter
XM_017017790.2:c.5760_5761insT	XP_016873279.1:p.Arg1921Ter
XM_017017791.1:c.5760_5761insT	XP_016873280.1:p.Arg1921Ter
XR_002957150.1:n.6360_6361insT
NM_001351834.2:c.5760_5761insT	NP_001338763.1:p.Arg1921Ter
NM_000051.4:c.5760_5761insT MANE Select	NP_000042.3:p.Arg1921Ter