Canonical Allele Identifier: CA10579048
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 230468
dbSNP Id: rs876658583

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108257525del , CM000673.2:g.108257525del GRCh38
NC_000011.9:g.108128252del , CM000673.1:g.108128252del GRCh37
NC_000011.8:g.107633462del NCBI36
NG_009830.1:g.39694del , LRG_135:g.39694del

Transcript Alleles

HGVS Amino-acid change
ENST00000527805.6:c.2295del ENSP00000435747.2:p.Asn765LysfsTer12
ENST00000675595.1:c.2130del ENSP00000502563.1:p.Asn710LysfsTer12
ENST00000675843.1:c.2295del MANE Select ENSP00000501606.1:p.Asn765LysfsTer12
ENST00000278616.8:c.2295del ENSP00000278616.4:p.Asn765LysfsTer12
ENST00000452508.6:c.2295del ENSP00000388058.2:p.Asn765LysfsTer12
ENST00000527805.5:c.2295del ENSP00000435747.1:p.Asn765LysfsTer12
NM_000051.3:c.2295del , LRG_135t1:c.2295del NP_000042.3:p.Asn765LysfsTer12
XM_005271561.3:c.2295del XP_005271618.2:p.Asn765LysfsTer12
XM_005271562.3:c.2295del XP_005271619.2:p.Asn765LysfsTer12
XM_006718843.2:c.2295del XP_006718906.1:p.Asn765LysfsTer12
XM_011542840.1:c.2295del XP_011541142.1:p.Asn765LysfsTer12
XM_011542841.1:c.2295del XP_011541143.1:p.Asn765LysfsTer12
XM_011542842.1:c.2130del XP_011541144.1:p.Asn710LysfsTer12
XM_011542843.1:c.2295del XP_011541145.1:p.Asn765LysfsTer12
XM_011542844.1:c.1251del XP_011541146.1:p.Asn417LysfsTer12
XM_011542845.1:c.987del XP_011541147.1:p.Asn329LysfsTer12
XM_011542846.1:c.2295del XP_011541148.1:p.Asn765LysfsTer12
NM_001351834.1:c.2295del NP_001338763.1:p.Asn765LysfsTer12
XM_005271562.5:c.2295del XP_005271619.2:p.Asn765LysfsTer12
XM_006718843.4:c.2295del XP_006718906.1:p.Asn765LysfsTer12
XM_011542840.3:c.2295del XP_011541142.1:p.Asn765LysfsTer12
XM_011542842.3:c.2130del XP_011541144.1:p.Asn710LysfsTer12
XM_011542843.2:c.2295del XP_011541145.1:p.Asn765LysfsTer12
XM_011542844.3:c.1251del XP_011541146.1:p.Asn417LysfsTer12
XM_011542845.2:c.987del XP_011541147.1:p.Asn329LysfsTer12
XM_017017789.2:c.2295del XP_016873278.1:p.Asn765LysfsTer12
XM_017017790.2:c.2295del XP_016873279.1:p.Asn765LysfsTer12
XM_017017791.1:c.2295del XP_016873280.1:p.Asn765LysfsTer12
XM_017017792.2:c.2295del XP_016873281.1:p.Asn765LysfsTer12
XR_002957150.1:n.3028del
NM_001351834.2:c.2295del NP_001338763.1:p.Asn765LysfsTer12
NM_000051.4:c.2295del MANE Select NP_000042.3:p.Asn765LysfsTer12