Canonical Allele Identifier: CA2580083388

Gene: ATM

Linked Data

• ClinVar Variation Id: 1802811
• ClinVar RCV Id: RCV002466086

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108304739_108304746dup , CM000673.2:g.108304739_108304746dup	GRCh38
NC_000011.9:g.108175466_108175473dup , CM000673.1:g.108175466_108175473dup	GRCh37
NC_000011.8:g.107680676_107680683dup	NCBI36
NG_009830.1:g.86908_86915dup , LRG_135:g.86908_86915dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000452508.7:c.5561_5568dup	ENSP00000388058.2:p.Ser1857GlnfsTer?
ENST00000713593.1:c.*5032_*5039dup	ENSP00000518889.1:n.*5032_*5039dup
ENST00000278616.9:c.5561_5568dup	ENSP00000278616.4:p.Ser1857GlnfsTer?
ENST00000683174.1:n.7045_7052dup
ENST00000683524.1:n.785_792dup
ENST00000684152.1:n.1275_1282dup
ENST00000527805.6:c.*625_*632dup	ENSP00000435747.2:n.*625_*632dup
ENST00000675595.1:c.*625_*632dup	ENSP00000502563.1:n.*625_*632dup
ENST00000675843.1:c.5561_5568dup MANE Select	ENSP00000501606.1:p.Ser1857GlnfsTer?
ENST00000278616.8:c.5561_5568dup	ENSP00000278616.4:p.Ser1857GlnfsTer?
ENST00000452508.6:c.5561_5568dup	ENSP00000388058.2:p.Ser1857GlnfsTer?
ENST00000524792.5:n.1776_1783dup
ENST00000529588.5:c.73_80dup
ENST00000533690.5:n.965_972dup
NM_000051.3:c.5561_5568dup , LRG_135t1:c.5561_5568dup	NP_000042.3:p.Ser1857GlnfsTer?
XM_005271561.3:c.5561_5568dup	XP_005271618.2:p.Ser1857GlnfsTer?
XM_005271562.3:c.5561_5568dup	XP_005271619.2:p.Ser1857GlnfsTer?
XM_006718843.2:c.5561_5568dup	XP_006718906.1:p.Ser1857GlnfsTer?
XM_006718845.1:c.1517_1524dup	XP_006718908.1:p.Ser509GlnfsTer?
XM_011542840.1:c.5561_5568dup	XP_011541142.1:p.Ser1857GlnfsTer?
XM_011542841.1:c.5561_5568dup	XP_011541143.1:p.Ser1857GlnfsTer?
XM_011542842.1:c.5396_5403dup	XP_011541144.1:p.Ser1802GlnfsTer?
XM_011542843.1:c.5561_5568dup	XP_011541145.1:p.Ser1857GlnfsTer?
XM_011542844.1:c.4517_4524dup	XP_011541146.1:p.Ser1509GlnfsTer?
XM_011542845.1:c.4253_4260dup	XP_011541147.1:p.Ser1421GlnfsTer?
XM_011542847.1:c.632_639dup	XP_011541149.1:p.Ser214GlnfsTer?
NM_001351834.1:c.5561_5568dup	NP_001338763.1:p.Ser1857GlnfsTer?
XM_005271562.5:c.5561_5568dup	XP_005271619.2:p.Ser1857GlnfsTer?
XM_006718843.4:c.5561_5568dup	XP_006718906.1:p.Ser1857GlnfsTer?
XM_006718845.2:c.1517_1524dup	XP_006718908.1:p.Ser509GlnfsTer?
XM_011542840.3:c.5561_5568dup	XP_011541142.1:p.Ser1857GlnfsTer?
XM_011542842.3:c.5396_5403dup	XP_011541144.1:p.Ser1802GlnfsTer?
XM_011542843.2:c.5561_5568dup	XP_011541145.1:p.Ser1857GlnfsTer?
XM_011542844.3:c.4517_4524dup	XP_011541146.1:p.Ser1509GlnfsTer?
XM_011542845.2:c.4253_4260dup	XP_011541147.1:p.Ser1421GlnfsTer?
XM_017017789.2:c.5561_5568dup	XP_016873278.1:p.Ser1857GlnfsTer?
XM_017017790.2:c.5561_5568dup	XP_016873279.1:p.Ser1857GlnfsTer?
XM_017017791.1:c.5561_5568dup	XP_016873280.1:p.Ser1857GlnfsTer?
XR_002957150.1:n.6161_6168dup
NM_001351834.2:c.5561_5568dup	NP_001338763.1:p.Ser1857GlnfsTer?
NM_000051.4:c.5561_5568dup MANE Select	NP_000042.3:p.Ser1857GlnfsTer?