Canonical Allele Identifier: CA16041394
Gene: ATM HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371020
dbSNP Id: rs1057516944

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108267310_108267311del , CM000673.2:g.108267310_108267311del GRCh38
NC_000011.9:g.108138037_108138038del , CM000673.1:g.108138037_108138038del GRCh37
NC_000011.8:g.107643247_107643248del NCBI36
NG_009830.1:g.49479_49480del , LRG_135:g.49479_49480del

Transcript Alleles

HGVS Amino-acid change
NM_000051.3:c.2606_2607del , LRG_135t1:c.2606_2607del NP_000042.3:p.Ala869GlufsTer14
XM_005271561.3:c.2606_2607del XP_005271618.2:p.Ala869GlufsTer14
XM_005271562.3:c.2606_2607del XP_005271619.2:p.Ala869GlufsTer14
XM_006718843.2:c.2606_2607del XP_006718906.1:p.Ala869GlufsTer14
XM_011542840.1:c.2606_2607del XP_011541142.1:p.Ala869GlufsTer14
XM_011542841.1:c.2606_2607del XP_011541143.1:p.Ala869GlufsTer14
XM_011542842.1:c.2441_2442del XP_011541144.1:p.Ala814GlufsTer14
XM_011542843.1:c.2606_2607del XP_011541145.1:p.Ala869GlufsTer14
XM_011542844.1:c.1562_1563del XP_011541146.1:p.Ala521GlufsTer14
XM_011542845.1:c.1298_1299del XP_011541147.1:p.Ala433GlufsTer14
XM_011542846.1:c.2606_2607del XP_011541148.1:p.Ala869GlufsTer14
NM_001351834.1:c.2606_2607del VV NP_001338763.1:p.Ala869GlufsTer14
XM_005271562.5:c.2606_2607del
XM_006718843.4:c.2606_2607del
XM_011542840.3:c.2606_2607del
XM_011542842.3:c.2441_2442del
XM_011542843.2:c.2606_2607del
XM_011542844.3:c.1562_1563del
XM_011542845.2:c.1298_1299del
XM_017017789.2:c.2606_2607del XP_016873278.1:p.Ala869GlufsTer14
XM_017017790.2:c.2606_2607del XP_016873279.1:p.Ala869GlufsTer14
XM_017017791.1:c.2606_2607del XP_016873280.1:p.Ala869GlufsTer14
XM_017017792.2:c.2606_2607del XP_016873281.1:p.Ala869GlufsTer14
XR_002957150.1:n.3339_3340del
ENST00000278616.8:c.2606_2607del ENSP00000278616.4:p.Ala869GlufsTer14
ENST00000452508.6:c.2606_2607del ENSP00000388058.2:p.Ala869GlufsTer14
ENST00000527805.5:c.2606_2607del ENSP00000435747.1:p.Ala869GlufsTer14