Canonical Allele Identifier: CA2725210771

Gene: ATM

Linked Data

• dbSNP Id: rs2135929107

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108302939dup , CM000673.2:g.108302939dup	GRCh38
NC_000011.9:g.108173666dup , CM000673.1:g.108173666dup	GRCh37
NC_000011.8:g.107678876dup	NCBI36
NG_009830.1:g.85108dup , LRG_135:g.85108dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5406dup	ENSP00000388058.2:p.Asp1803Ter
ENST00000713593.1:c.*4877dup	ENSP00000518889.1:n.*4877dup
ENST00000278616.9:c.5406dup	ENSP00000278616.4:p.Asp1803Ter
ENST00000683174.1:n.6890dup
ENST00000683524.1:n.630dup
ENST00000684152.1:n.1120dup
ENST00000527805.6:c.*470dup	ENSP00000435747.2:n.*470dup
ENST00000675595.1:c.*470dup	ENSP00000502563.1:n.*470dup
ENST00000675843.1:c.5406dup MANE Select	ENSP00000501606.1:p.Asp1803Ter
ENST00000278616.8:c.5406dup	ENSP00000278616.4:p.Asp1803Ter
ENST00000452508.6:c.5406dup	ENSP00000388058.2:p.Asp1803Ter
ENST00000524792.5:n.1621dup
ENST00000533690.5:n.810dup
ENST00000534625.1:n.635dup
NM_000051.3:c.5406dup , LRG_135t1:c.5406dup	NP_000042.3:p.Asp1803Ter
XM_005271561.3:c.5406dup	XP_005271618.2:p.Asp1803Ter
XM_005271562.3:c.5406dup	XP_005271619.2:p.Asp1803Ter
XM_006718843.2:c.5406dup	XP_006718906.1:p.Asp1803Ter
XM_006718845.1:c.1362dup	XP_006718908.1:p.Asp455Ter
XM_011542840.1:c.5406dup	XP_011541142.1:p.Asp1803Ter
XM_011542841.1:c.5406dup	XP_011541143.1:p.Asp1803Ter
XM_011542842.1:c.5241dup	XP_011541144.1:p.Asp1748Ter
XM_011542843.1:c.5406dup	XP_011541145.1:p.Asp1803Ter
XM_011542844.1:c.4362dup	XP_011541146.1:p.Asp1455Ter
XM_011542845.1:c.4098dup	XP_011541147.1:p.Asp1367Ter
XM_011542846.1:c.*64dup	XP_011541148.1:n.*64dup
XM_011542847.1:c.477dup	XP_011541149.1:p.Asp160Ter
NM_001351834.1:c.5406dup	NP_001338763.1:p.Asp1803Ter
XM_005271562.5:c.5406dup	XP_005271619.2:p.Asp1803Ter
XM_006718843.4:c.5406dup	XP_006718906.1:p.Asp1803Ter
XM_006718845.2:c.1362dup	XP_006718908.1:p.Asp455Ter
XM_011542840.3:c.5406dup	XP_011541142.1:p.Asp1803Ter
XM_011542842.3:c.5241dup	XP_011541144.1:p.Asp1748Ter
XM_011542843.2:c.5406dup	XP_011541145.1:p.Asp1803Ter
XM_011542844.3:c.4362dup	XP_011541146.1:p.Asp1455Ter
XM_011542845.2:c.4098dup	XP_011541147.1:p.Asp1367Ter
XM_017017789.2:c.5406dup	XP_016873278.1:p.Asp1803Ter
XM_017017790.2:c.5406dup	XP_016873279.1:p.Asp1803Ter
XM_017017791.1:c.5406dup	XP_016873280.1:p.Asp1803Ter
XR_002957150.1:n.6006dup
NM_001351834.2:c.5406dup	NP_001338763.1:p.Asp1803Ter
NM_000051.4:c.5406dup MANE Select	NP_000042.3:p.Asp1803Ter