Canonical Allele Identifier: CA2573053395

Gene: ATM

Linked Data

• ClinVar Variation Id: 1332562
• ClinVar RCV Id: RCV001805608 ; RCV004040917
• dbSNP Id: rs2135237416

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108244809_108244812delinsCCT , CM000673.2:g.108244809_108244812delinsCCT	GRCh38
NC_000011.9:g.108115536_108115539delinsCCT , CM000673.1:g.108115536_108115539delinsCCT	GRCh37
NC_000011.8:g.107620746_107620749delinsCCT	NCBI36
NG_009830.1:g.26978_26981delinsCCT , LRG_135:g.26978_26981delinsCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.684_687delinsCCT	ENSP00000388058.2:p.Asn230IlefsTer4
ENST00000713593.1:c.*155_*158delinsCCT	ENSP00000518889.1:n.*155_*158delinsCCT
ENST00000278616.9:c.684_687delinsCCT	ENSP00000278616.4:p.Asn230IlefsTer4
ENST00000682430.1:n.783_786delinsCCT
ENST00000682516.1:n.818_821delinsCCT
ENST00000682956.1:n.818_821delinsCCT
ENST00000683100.1:n.3031_3034delinsCCT
ENST00000683174.1:n.834_837delinsCCT
ENST00000683605.1:n.179_182delinsCCT
ENST00000684037.1:c.684_687delinsCCT	ENSP00000508245.1:p.Asn230IlefsTer4
ENST00000684061.1:n.818_821delinsCCT
ENST00000684179.1:n.653_656delinsCCT
ENST00000527805.6:c.684_687delinsCCT	ENSP00000435747.2:p.Asn230IlefsTer4
ENST00000675595.1:c.519_522delinsCCT	ENSP00000502563.1:p.Asn175IlefsTer4
ENST00000675843.1:c.684_687delinsCCT MANE Select	ENSP00000501606.1:p.Asn230IlefsTer4
ENST00000278616.8:c.684_687delinsCCT	ENSP00000278616.4:p.Asn230IlefsTer4
ENST00000452508.6:c.684_687delinsCCT	ENSP00000388058.2:p.Asn230IlefsTer4
ENST00000527805.5:c.684_687delinsCCT	ENSP00000435747.1:p.Asn230IlefsTer4
NM_000051.3:c.684_687delinsCCT , LRG_135t1:c.684_687delinsCCT	NP_000042.3:p.Asn230IlefsTer4
XM_005271561.3:c.684_687delinsCCT	XP_005271618.2:p.Asn230IlefsTer4
XM_005271562.3:c.684_687delinsCCT	XP_005271619.2:p.Asn230IlefsTer4
XM_006718843.2:c.684_687delinsCCT	XP_006718906.1:p.Asn230IlefsTer4
XM_011542840.1:c.684_687delinsCCT	XP_011541142.1:p.Asn230IlefsTer4
XM_011542841.1:c.684_687delinsCCT	XP_011541143.1:p.Asn230IlefsTer4
XM_011542842.1:c.519_522delinsCCT	XP_011541144.1:p.Asn175IlefsTer4
XM_011542843.1:c.684_687delinsCCT	XP_011541145.1:p.Asn230IlefsTer4
XM_011542844.1:c.-361_-358delinsCCT	XP_011541146.1:n.-361_-358delinsCCT
XM_011542846.1:c.684_687delinsCCT	XP_011541148.1:p.Asn230IlefsTer4
NM_001351834.1:c.684_687delinsCCT	NP_001338763.1:p.Asn230IlefsTer4
XM_005271562.5:c.684_687delinsCCT	XP_005271619.2:p.Asn230IlefsTer4
XM_006718843.4:c.684_687delinsCCT	XP_006718906.1:p.Asn230IlefsTer4
XM_011542840.3:c.684_687delinsCCT	XP_011541142.1:p.Asn230IlefsTer4
XM_011542842.3:c.519_522delinsCCT	XP_011541144.1:p.Asn175IlefsTer4
XM_011542843.2:c.684_687delinsCCT	XP_011541145.1:p.Asn230IlefsTer4
XM_011542844.3:c.-361_-358delinsCCT	XP_011541146.1:n.-361_-358delinsCCT
XM_017017789.2:c.684_687delinsCCT	XP_016873278.1:p.Asn230IlefsTer4
XM_017017790.2:c.684_687delinsCCT	XP_016873279.1:p.Asn230IlefsTer4
XM_017017791.1:c.684_687delinsCCT	XP_016873280.1:p.Asn230IlefsTer4
XM_017017792.2:c.684_687delinsCCT	XP_016873281.1:p.Asn230IlefsTer4
XR_002957150.1:n.1417_1420delinsCCT
NM_001351834.2:c.684_687delinsCCT	NP_001338763.1:p.Asn230IlefsTer4
NM_000051.4:c.684_687delinsCCT MANE Select	NP_000042.3:p.Asn230IlefsTer4