Canonical Allele Identifier: CA1998783298
Gene: ATM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108267292_108267295delinsATAG , CM000673.2:g.108267292_108267295delinsATAG GRCh38
NC_000011.9:g.108138019_108138022delinsATAG , CM000673.1:g.108138019_108138022delinsATAG GRCh37
NC_000011.8:g.107643229_107643232delinsATAG NCBI36
NG_009830.1:g.49461_49464delinsATAG , LRG_135:g.49461_49464delinsATAG

Transcript Alleles

HGVS Amino-acid change
ENST00000452508.7:c.2588_2591delinsATAG ENSP00000388058.2:p.Asp863=
ENST00000713593.1:c.*2059_*2062delinsATAG ENSP00000518889.1:n.*2059_*2062delinsATAG...
ENST00000278616.9:c.2588_2591delinsATAG ENSP00000278616.4:p.Asp863=
ENST00000682516.1:n.2722_2725delinsATAG
ENST00000683174.1:n.2738_2741delinsATAG
ENST00000683605.1:n.2083_2086delinsATAG
ENST00000684037.1:c.*1523_*1526delinsATAG ENSP00000508245.1:n.*1523_*1526delinsATAG...
ENST00000527805.6:c.2588_2591delinsATAG ENSP00000435747.2:p.Asp863=
ENST00000675595.1:c.2423_2426delinsATAG ENSP00000502563.1:p.Asp808=
ENST00000675843.1:c.2588_2591delinsATAG MANE Select ENSP00000501606.1:p.Asp863=
ENST00000278616.8:c.2588_2591delinsATAG ENSP00000278616.4:p.Asp863=
ENST00000452508.6:c.2588_2591delinsATAG ENSP00000388058.2:p.Asp863=
ENST00000527805.5:c.2588_2591delinsATAG ENSP00000435747.1:p.Asp863=
NM_000051.3:c.2588_2591delinsATAG , LRG_135t1:c.2588_2591delinsATAG NP_000042.3:p.Asp863=
XM_005271561.3:c.2588_2591delinsATAG XP_005271618.2:p.Asp863=
XM_005271562.3:c.2588_2591delinsATAG XP_005271619.2:p.Asp863=
XM_006718843.2:c.2588_2591delinsATAG XP_006718906.1:p.Asp863=
XM_011542840.1:c.2588_2591delinsATAG XP_011541142.1:p.Asp863=
XM_011542841.1:c.2588_2591delinsATAG XP_011541143.1:p.Asp863=
XM_011542842.1:c.2423_2426delinsATAG XP_011541144.1:p.Asp808=
XM_011542843.1:c.2588_2591delinsATAG XP_011541145.1:p.Asp863=
XM_011542844.1:c.1544_1547delinsATAG XP_011541146.1:p.Asp515=
XM_011542845.1:c.1280_1283delinsATAG XP_011541147.1:p.Asp427=
XM_011542846.1:c.2588_2591delinsATAG XP_011541148.1:p.Asp863=
NM_001351834.1:c.2588_2591delinsATAG NP_001338763.1:p.Asp863=
XM_005271562.5:c.2588_2591delinsATAG XP_005271619.2:p.Asp863=
XM_006718843.4:c.2588_2591delinsATAG XP_006718906.1:p.Asp863=
XM_011542840.3:c.2588_2591delinsATAG XP_011541142.1:p.Asp863=
XM_011542842.3:c.2423_2426delinsATAG XP_011541144.1:p.Asp808=
XM_011542843.2:c.2588_2591delinsATAG XP_011541145.1:p.Asp863=
XM_011542844.3:c.1544_1547delinsATAG XP_011541146.1:p.Asp515=
XM_011542845.2:c.1280_1283delinsATAG XP_011541147.1:p.Asp427=
XM_017017789.2:c.2588_2591delinsATAG XP_016873278.1:p.Asp863=
XM_017017790.2:c.2588_2591delinsATAG XP_016873279.1:p.Asp863=
XM_017017791.1:c.2588_2591delinsATAG XP_016873280.1:p.Asp863=
XM_017017792.2:c.2588_2591delinsATAG XP_016873281.1:p.Asp863=
XR_002957150.1:n.3321_3324delinsATAG
NM_001351834.2:c.2588_2591delinsATAG NP_001338763.1:p.Asp863=
NM_000051.4:c.2588_2591delinsATAG MANE Select NP_000042.3:p.Asp863=