Canonical Allele Identifier: CA2499220664

Gene: ATM

Linked Data

• ClinVar Variation Id: 1069663
• ClinVar RCV Id: RCV001381591
• dbSNP Id: rs2135977542

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108307959_108307965del , CM000673.2:g.108307959_108307965del	GRCh38
NC_000011.9:g.108178686_108178692del , CM000673.1:g.108178686_108178692del	GRCh37
NC_000011.8:g.107683896_107683902del	NCBI36
NG_009830.1:g.90128_90134del , LRG_135:g.90128_90134del
NG_054724.1:g.166869_166875del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.5737_5743del	ENSP00000388058.2:p.Val1913ThrfsTer2
ENST00000713593.1:c.*5208_*5214del	ENSP00000518889.1:n.*5208_*5214del
ENST00000278616.9:c.5737_5743del	ENSP00000278616.4:p.Val1913ThrfsTer2
ENST00000525056.2:n.156_162del
ENST00000682286.1:n.494_500del
ENST00000682302.1:n.155_161del
ENST00000683174.1:n.7221_7227del
ENST00000683524.1:n.961_967del
ENST00000684152.1:n.1451_1457del
ENST00000527805.6:c.*801_*807del	ENSP00000435747.2:n.*801_*807del
ENST00000675595.1:c.*801_*807del	ENSP00000502563.1:n.*801_*807del
ENST00000675843.1:c.5737_5743del MANE Select	ENSP00000501606.1:p.Val1913ThrfsTer2
ENST00000278616.8:c.5737_5743del	ENSP00000278616.4:p.Val1913ThrfsTer2
ENST00000452508.6:c.5737_5743del	ENSP00000388058.2:p.Val1913ThrfsTer2
ENST00000524792.5:n.1952_1958del
ENST00000529588.5:c.187-2201_187-2195del
ENST00000533690.5:n.1141_1147del
NM_000051.3:c.5737_5743del , LRG_135t1:c.5737_5743del	NP_000042.3:p.Val1913ThrfsTer2
XM_005271561.3:c.5737_5743del	XP_005271618.2:p.Val1913ThrfsTer2
XM_005271562.3:c.5737_5743del	XP_005271619.2:p.Val1913ThrfsTer2
XM_006718843.2:c.5737_5743del	XP_006718906.1:p.Val1913ThrfsTer2
XM_006718845.1:c.1693_1699del	XP_006718908.1:p.Val565ThrfsTer2
XM_011542840.1:c.5737_5743del	XP_011541142.1:p.Val1913ThrfsTer2
XM_011542841.1:c.5737_5743del	XP_011541143.1:p.Val1913ThrfsTer2
XM_011542842.1:c.5572_5578del	XP_011541144.1:p.Val1858ThrfsTer2
XM_011542843.1:c.5737_5743del	XP_011541145.1:p.Val1913ThrfsTer2
XM_011542844.1:c.4693_4699del	XP_011541146.1:p.Val1565ThrfsTer2
XM_011542845.1:c.4429_4435del	XP_011541147.1:p.Val1477ThrfsTer2
XM_011542847.1:c.808_814del	XP_011541149.1:p.Val270ThrfsTer2
NM_001351834.1:c.5737_5743del	NP_001338763.1:p.Val1913ThrfsTer2
XM_005271562.5:c.5737_5743del	XP_005271619.2:p.Val1913ThrfsTer2
XM_006718843.4:c.5737_5743del	XP_006718906.1:p.Val1913ThrfsTer2
XM_006718845.2:c.1693_1699del	XP_006718908.1:p.Val565ThrfsTer2
XM_011542840.3:c.5737_5743del	XP_011541142.1:p.Val1913ThrfsTer2
XM_011542842.3:c.5572_5578del	XP_011541144.1:p.Val1858ThrfsTer2
XM_011542843.2:c.5737_5743del	XP_011541145.1:p.Val1913ThrfsTer2
XM_011542844.3:c.4693_4699del	XP_011541146.1:p.Val1565ThrfsTer2
XM_011542845.2:c.4429_4435del	XP_011541147.1:p.Val1477ThrfsTer2
XM_017017789.2:c.5737_5743del	XP_016873278.1:p.Val1913ThrfsTer2
XM_017017790.2:c.5737_5743del	XP_016873279.1:p.Val1913ThrfsTer2
XM_017017791.1:c.5737_5743del	XP_016873280.1:p.Val1913ThrfsTer2
XR_002957150.1:n.6337_6343del
NM_001351834.2:c.5737_5743del	NP_001338763.1:p.Val1913ThrfsTer2
NM_000051.4:c.5737_5743del MANE Select	NP_000042.3:p.Val1913ThrfsTer2