Canonical Allele Identifier: CA16041382
Gene: ATM HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370683
ClinVar RCV Id: RCV000411087
dbSNP Id: rs1057516683

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108244044del , CM000673.2:g.108244044del GRCh38
NC_000011.9:g.108114771del , CM000673.1:g.108114771del GRCh37
NC_000011.8:g.107619981del NCBI36
NG_009830.1:g.26213del , LRG_135:g.26213del

Transcript Alleles

HGVS Amino-acid change
NM_000051.3:c.588del , LRG_135t1:c.588del NP_000042.3:p.Gly197AspfsTer9
XM_005271561.3:c.588del XP_005271618.2:p.Gly197AspfsTer9
XM_005271562.3:c.588del XP_005271619.2:p.Gly197AspfsTer9
XM_006718843.2:c.588del XP_006718906.1:p.Gly197AspfsTer9
XM_011542840.1:c.588del XP_011541142.1:p.Gly197AspfsTer9
XM_011542841.1:c.588del XP_011541143.1:p.Gly197AspfsTer9
XM_011542842.1:c.423del XP_011541144.1:p.Gly142AspfsTer9
XM_011542843.1:c.588del XP_011541145.1:p.Gly197AspfsTer9
XM_011542844.1:c.-457del XP_011541146.1:p.=
XM_011542846.1:c.588del XP_011541148.1:p.Gly197AspfsTer9
NM_001351834.1:c.588del VV NP_001338763.1:p.Gly197AspfsTer9
XM_005271562.5:c.588del XP_005271619.2:p.Gly197AspfsTer9
XM_006718843.4:c.588del XP_006718906.1:p.Gly197AspfsTer9
XM_011542840.3:c.588del XP_011541142.1:p.Gly197AspfsTer9
XM_011542842.3:c.423del XP_011541144.1:p.Gly142AspfsTer9
XM_011542843.2:c.588del XP_011541145.1:p.Gly197AspfsTer9
XM_011542844.3:c.-457del XP_011541146.1:p.=
XM_017017789.2:c.588del XP_016873278.1:p.Gly197AspfsTer9
XM_017017790.2:c.588del XP_016873279.1:p.Gly197AspfsTer9
XM_017017791.1:c.588del XP_016873280.1:p.Gly197AspfsTer9
XM_017017792.2:c.588del XP_016873281.1:p.Gly197AspfsTer9
XR_002957150.1:n.1321del
ENST00000278616.8:c.588del ENSP00000278616.4:p.Gly197AspfsTer9
ENST00000452508.6:c.588del ENSP00000388058.2:p.Gly197AspfsTer9
ENST00000527805.5:c.588del ENSP00000435747.1:p.Gly197AspfsTer9
ENST00000527891.5:c.423del ENSP00000433955.1:p.Gly142AspfsTer9