Canonical Allele Identifier: CA2573146651

Gene: ATM

Linked Data

• ClinVar Variation Id: 1374150
• ClinVar RCV Id: RCV001877680
• dbSNP Id: rs876658287

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108304727dup , CM000673.2:g.108304727dup	GRCh38
NC_000011.9:g.108175454dup , CM000673.1:g.108175454dup	GRCh37
NC_000011.8:g.107680664dup	NCBI36
NG_009830.1:g.86896dup , LRG_135:g.86896dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5549dup	ENSP00000388058.2:p.Leu1850PhefsTer7
ENST00000713593.1:c.*5020dup	ENSP00000518889.1:n.*5020dup
ENST00000278616.9:c.5549dup	ENSP00000278616.4:p.Leu1850PhefsTer7
ENST00000683174.1:n.7033dup
ENST00000683524.1:n.773dup
ENST00000684152.1:n.1263dup
ENST00000527805.6:c.*613dup	ENSP00000435747.2:n.*613dup
ENST00000675595.1:c.*613dup	ENSP00000502563.1:n.*613dup
ENST00000675843.1:c.5549dup MANE Select	ENSP00000501606.1:p.Leu1850PhefsTer7
ENST00000278616.8:c.5549dup	ENSP00000278616.4:p.Leu1850PhefsTer7
ENST00000452508.6:c.5549dup	ENSP00000388058.2:p.Leu1850PhefsTer7
ENST00000524792.5:n.1764dup
ENST00000529588.5:c.61dup
ENST00000533690.5:n.953dup
NM_000051.3:c.5549dup , LRG_135t1:c.5549dup	NP_000042.3:p.Leu1850PhefsTer7
XM_005271561.3:c.5549dup	XP_005271618.2:p.Leu1850PhefsTer7
XM_005271562.3:c.5549dup	XP_005271619.2:p.Leu1850PhefsTer7
XM_006718843.2:c.5549dup	XP_006718906.1:p.Leu1850PhefsTer7
XM_006718845.1:c.1505dup	XP_006718908.1:p.Leu502PhefsTer7
XM_011542840.1:c.5549dup	XP_011541142.1:p.Leu1850PhefsTer7
XM_011542841.1:c.5549dup	XP_011541143.1:p.Leu1850PhefsTer7
XM_011542842.1:c.5384dup	XP_011541144.1:p.Leu1795PhefsTer7
XM_011542843.1:c.5549dup	XP_011541145.1:p.Leu1850PhefsTer7
XM_011542844.1:c.4505dup	XP_011541146.1:p.Leu1502PhefsTer7
XM_011542845.1:c.4241dup	XP_011541147.1:p.Leu1414PhefsTer7
XM_011542847.1:c.620dup	XP_011541149.1:p.Leu207PhefsTer7
NM_001351834.1:c.5549dup	NP_001338763.1:p.Leu1850PhefsTer7
XM_005271562.5:c.5549dup	XP_005271619.2:p.Leu1850PhefsTer7
XM_006718843.4:c.5549dup	XP_006718906.1:p.Leu1850PhefsTer7
XM_006718845.2:c.1505dup	XP_006718908.1:p.Leu502PhefsTer7
XM_011542840.3:c.5549dup	XP_011541142.1:p.Leu1850PhefsTer7
XM_011542842.3:c.5384dup	XP_011541144.1:p.Leu1795PhefsTer7
XM_011542843.2:c.5549dup	XP_011541145.1:p.Leu1850PhefsTer7
XM_011542844.3:c.4505dup	XP_011541146.1:p.Leu1502PhefsTer7
XM_011542845.2:c.4241dup	XP_011541147.1:p.Leu1414PhefsTer7
XM_017017789.2:c.5549dup	XP_016873278.1:p.Leu1850PhefsTer7
XM_017017790.2:c.5549dup	XP_016873279.1:p.Leu1850PhefsTer7
XM_017017791.1:c.5549dup	XP_016873280.1:p.Leu1850PhefsTer7
XR_002957150.1:n.6149dup
NM_001351834.2:c.5549dup	NP_001338763.1:p.Leu1850PhefsTer7
NM_000051.4:c.5549dup MANE Select	NP_000042.3:p.Leu1850PhefsTer7