Canonical Allele Identifier: CA2724937559

Gene: ATM

Linked Data

• dbSNP Id: rs4987971

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108268383_108268388dup , CM000673.2:g.108268383_108268388dup	GRCh38
NC_000011.9:g.108139110_108139115dup , CM000673.1:g.108139110_108139115dup	GRCh37
NC_000011.8:g.107644320_107644325dup	NCBI36
NG_009830.1:g.50552_50557dup , LRG_135:g.50552_50557dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.2639-27_2639-22dup	ENSP00000388058.2:n.2639-27_2639-22dup
ENST00000713593.1:c.*2110-27_*2110-22dup	ENSP00000518889.1:n.*2110-27_*2110-22dup
ENST00000278616.9:c.2639-27_2639-22dup	ENSP00000278616.4:n.2639-27_2639-22dup
ENST00000682516.1:n.2772+1041_2772+1046dup
ENST00000683174.1:n.2789-27_2789-22dup
ENST00000684037.1:c.*1573+1041_*1573+1046dup	ENSP00000508245.1:n.*1573+1041_*1573+1046dup
ENST00000527805.6:c.2639-27_2639-22dup	ENSP00000435747.2:n.2639-27_2639-22dup
ENST00000675595.1:c.2474-27_2474-22dup	ENSP00000502563.1:n.2474-27_2474-22dup
ENST00000675843.1:c.2639-27_2639-22dup MANE Select	ENSP00000501606.1:n.2639-27_2639-22dup
ENST00000278616.8:c.2639-27_2639-22dup	ENSP00000278616.4:n.2639-27_2639-22dup
ENST00000452508.6:c.2639-27_2639-22dup	ENSP00000388058.2:n.2639-27_2639-22dup
ENST00000527805.5:c.2639-27_2639-22dup	ENSP00000435747.1:n.2639-27_2639-22dup
NM_000051.3:c.2639-27_2639-22dup , LRG_135t1:c.2639-27_2639-22dup	NP_000042.3:n.2639-27_2639-22dup
XM_005271561.3:c.2639-27_2639-22dup	XP_005271618.2:n.2639-27_2639-22dup
XM_005271562.3:c.2639-27_2639-22dup	XP_005271619.2:n.2639-27_2639-22dup
XM_006718843.2:c.2639-27_2639-22dup	XP_006718906.1:n.2639-27_2639-22dup
XM_011542840.1:c.2639-27_2639-22dup	XP_011541142.1:n.2639-27_2639-22dup
XM_011542841.1:c.2639-27_2639-22dup	XP_011541143.1:n.2639-27_2639-22dup
XM_011542842.1:c.2474-27_2474-22dup	XP_011541144.1:n.2474-27_2474-22dup
XM_011542843.1:c.2639-27_2639-22dup	XP_011541145.1:n.2639-27_2639-22dup
XM_011542844.1:c.1595-27_1595-22dup	XP_011541146.1:n.1595-27_1595-22dup
XM_011542845.1:c.1331-27_1331-22dup	XP_011541147.1:n.1331-27_1331-22dup
XM_011542846.1:c.2639-27_2639-22dup	XP_011541148.1:n.2639-27_2639-22dup
NM_001351834.1:c.2639-27_2639-22dup	NP_001338763.1:n.2639-27_2639-22dup
XM_005271562.5:c.2639-27_2639-22dup	XP_005271619.2:n.2639-27_2639-22dup
XM_006718843.4:c.2639-27_2639-22dup	XP_006718906.1:n.2639-27_2639-22dup
XM_011542840.3:c.2639-27_2639-22dup	XP_011541142.1:n.2639-27_2639-22dup
XM_011542842.3:c.2474-27_2474-22dup	XP_011541144.1:n.2474-27_2474-22dup
XM_011542843.2:c.2639-27_2639-22dup	XP_011541145.1:n.2639-27_2639-22dup
XM_011542844.3:c.1595-27_1595-22dup	XP_011541146.1:n.1595-27_1595-22dup
XM_011542845.2:c.1331-27_1331-22dup	XP_011541147.1:n.1331-27_1331-22dup
XM_017017789.2:c.2639-27_2639-22dup	XP_016873278.1:n.2639-27_2639-22dup
XM_017017790.2:c.2639-27_2639-22dup	XP_016873279.1:n.2639-27_2639-22dup
XM_017017791.1:c.2639-27_2639-22dup	XP_016873280.1:n.2639-27_2639-22dup
XM_017017792.2:c.2639-27_2639-22dup	XP_016873281.1:n.2639-27_2639-22dup
XR_002957150.1:n.3372-27_3372-22dup
NM_001351834.2:c.2639-27_2639-22dup	NP_001338763.1:n.2639-27_2639-22dup
NM_000051.4:c.2639-27_2639-22dup MANE Select	NP_000042.3:n.2639-27_2639-22dup