Canonical Allele Identifier: CA2725211343

Gene: ATM

Linked Data

• dbSNP Id: rs2135929732

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108302966_108302967del , CM000673.2:g.108302966_108302967del	GRCh38
NC_000011.9:g.108173693_108173694del , CM000673.1:g.108173693_108173694del	GRCh37
NC_000011.8:g.107678903_107678904del	NCBI36
NG_009830.1:g.85135_85136del , LRG_135:g.85135_85136del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5433_5434del	ENSP00000388058.2:p.Ala1812PhefsTer10
ENST00000713593.1:c.*4904_*4905del	ENSP00000518889.1:n.*4904_*4905del
ENST00000278616.9:c.5433_5434del	ENSP00000278616.4:p.Ala1812PhefsTer10
ENST00000683174.1:n.6917_6918del
ENST00000683524.1:n.657_658del
ENST00000684152.1:n.1147_1148del
ENST00000527805.6:c.*497_*498del	ENSP00000435747.2:n.*497_*498del
ENST00000675595.1:c.*497_*498del	ENSP00000502563.1:n.*497_*498del
ENST00000675843.1:c.5433_5434del MANE Select	ENSP00000501606.1:p.Ala1812PhefsTer10
ENST00000278616.8:c.5433_5434del	ENSP00000278616.4:p.Ala1812PhefsTer10
ENST00000452508.6:c.5433_5434del	ENSP00000388058.2:p.Ala1812PhefsTer10
ENST00000524792.5:n.1648_1649del
ENST00000533690.5:n.837_838del
ENST00000534625.1:n.662_663del
NM_000051.3:c.5433_5434del , LRG_135t1:c.5433_5434del	NP_000042.3:p.Ala1812PhefsTer10
XM_005271561.3:c.5433_5434del	XP_005271618.2:p.Ala1812PhefsTer10
XM_005271562.3:c.5433_5434del	XP_005271619.2:p.Ala1812PhefsTer10
XM_006718843.2:c.5433_5434del	XP_006718906.1:p.Ala1812PhefsTer10
XM_006718845.1:c.1389_1390del	XP_006718908.1:p.Ala464PhefsTer10
XM_011542840.1:c.5433_5434del	XP_011541142.1:p.Ala1812PhefsTer10
XM_011542841.1:c.5433_5434del	XP_011541143.1:p.Ala1812PhefsTer10
XM_011542842.1:c.5268_5269del	XP_011541144.1:p.Ala1757PhefsTer10
XM_011542843.1:c.5433_5434del	XP_011541145.1:p.Ala1812PhefsTer10
XM_011542844.1:c.4389_4390del	XP_011541146.1:p.Ala1464PhefsTer10
XM_011542845.1:c.4125_4126del	XP_011541147.1:p.Ala1376PhefsTer10
XM_011542846.1:c.*91_*92del	XP_011541148.1:n.*91_*92del
XM_011542847.1:c.504_505del	XP_011541149.1:p.Ala169PhefsTer10
NM_001351834.1:c.5433_5434del	NP_001338763.1:p.Ala1812PhefsTer10
XM_005271562.5:c.5433_5434del	XP_005271619.2:p.Ala1812PhefsTer10
XM_006718843.4:c.5433_5434del	XP_006718906.1:p.Ala1812PhefsTer10
XM_006718845.2:c.1389_1390del	XP_006718908.1:p.Ala464PhefsTer10
XM_011542840.3:c.5433_5434del	XP_011541142.1:p.Ala1812PhefsTer10
XM_011542842.3:c.5268_5269del	XP_011541144.1:p.Ala1757PhefsTer10
XM_011542843.2:c.5433_5434del	XP_011541145.1:p.Ala1812PhefsTer10
XM_011542844.3:c.4389_4390del	XP_011541146.1:p.Ala1464PhefsTer10
XM_011542845.2:c.4125_4126del	XP_011541147.1:p.Ala1376PhefsTer10
XM_017017789.2:c.5433_5434del	XP_016873278.1:p.Ala1812PhefsTer10
XM_017017790.2:c.5433_5434del	XP_016873279.1:p.Ala1812PhefsTer10
XM_017017791.1:c.5433_5434del	XP_016873280.1:p.Ala1812PhefsTer10
XR_002957150.1:n.6033_6034del
NM_001351834.2:c.5433_5434del	NP_001338763.1:p.Ala1812PhefsTer10
NM_000051.4:c.5433_5434del MANE Select	NP_000042.3:p.Ala1812PhefsTer10