Canonical Allele Identifier: CA1998770757
Community Standard Title: NM_000051.4(ATM):c.1259_1262delinsTATC (p.Ile420=)
Gene: ATM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108250724_108250727delinsTATC , CM000673.2:g.108250724_108250727delinsTATC GRCh38
NC_000011.9:g.108121451_108121454delinsTATC , CM000673.1:g.108121451_108121454delinsTATC GRCh37
NC_000011.8:g.107626661_107626664delinsTATC NCBI36
NG_009830.1:g.32893_32896delinsTATC , LRG_135:g.32893_32896delinsTATC

Transcript Alleles

HGVS Amino-acid Change
NM_000051.4:c.1259_1262delinsTATC MANE Select NP_000042.3:p.Ile420=
ENST00000675843.1:c.1259_1262delinsTATC MANE Select ENSP00000501606.1:p.Ile420=
NM_000051.3:c.1259_1262delinsTATC , LRG_135t1:c.1259_1262delinsTATC NP_000042.3:p.Ile420=
NM_001351834.1:c.1259_1262delinsTATC NP_001338763.1:p.Ile420=
NM_001351834.2:c.1259_1262delinsTATC NP_001338763.1:p.Ile420=
ENST00000278616.8:c.1259_1262delinsTATC ENSP00000278616.4:p.Ile420=
ENST00000278616.9:c.1259_1262delinsTATC ENSP00000278616.4:p.Ile420=
ENST00000452508.6:c.1259_1262delinsTATC ENSP00000388058.2:p.Ile420=
ENST00000452508.7:c.1259_1262delinsTATC ENSP00000388058.2:p.Ile420=
ENST00000527805.5:c.1259_1262delinsTATC ENSP00000435747.1:p.Ile420=
ENST00000527805.6:c.1259_1262delinsTATC ENSP00000435747.2:p.Ile420=
ENST00000675595.1:c.1094_1097delinsTATC ENSP00000502563.1:p.Ile365=
ENST00000682516.1:n.1393_1396delinsTATC
ENST00000682956.1:n.1393_1396delinsTATC
ENST00000683174.1:n.1409_1412delinsTATC
ENST00000683605.1:n.754_757delinsTATC
ENST00000684037.1:c.*194_*197delinsTATC ENSP00000508245.1:n.*194_*197delinsTATC
ENST00000684061.1:n.1393_1396delinsTATC
ENST00000684179.1:n.1228_1231delinsTATC
ENST00000713593.1:c.*730_*733delinsTATC ENSP00000518889.1:n.*730_*733delinsTATC
XM_005271561.3:c.1259_1262delinsTATC XP_005271618.2:p.Ile420=
XM_005271562.3:c.1259_1262delinsTATC XP_005271619.2:p.Ile420=
XM_005271562.5:c.1259_1262delinsTATC XP_005271619.2:p.Ile420=
XM_006718843.2:c.1259_1262delinsTATC XP_006718906.1:p.Ile420=
XM_006718843.4:c.1259_1262delinsTATC XP_006718906.1:p.Ile420=
XM_011542840.1:c.1259_1262delinsTATC XP_011541142.1:p.Ile420=
XM_011542840.3:c.1259_1262delinsTATC XP_011541142.1:p.Ile420=
XM_011542841.1:c.1259_1262delinsTATC XP_011541143.1:p.Ile420=
XM_011542842.1:c.1094_1097delinsTATC XP_011541144.1:p.Ile365=
XM_011542842.3:c.1094_1097delinsTATC XP_011541144.1:p.Ile365=
XM_011542843.1:c.1259_1262delinsTATC XP_011541145.1:p.Ile420=
XM_011542843.2:c.1259_1262delinsTATC XP_011541145.1:p.Ile420=
XM_011542844.1:c.215_218delinsTATC XP_011541146.1:p.Ile72=
XM_011542844.3:c.215_218delinsTATC XP_011541146.1:p.Ile72=
XM_011542845.1:c.-50_-47delinsTATC XP_011541147.1:n.-50_-47delinsTATC
XM_011542845.2:c.-50_-47delinsTATC XP_011541147.1:n.-50_-47delinsTATC
XM_011542846.1:c.1259_1262delinsTATC XP_011541148.1:p.Ile420=
XM_017017789.2:c.1259_1262delinsTATC XP_016873278.1:p.Ile420=
XM_017017790.2:c.1259_1262delinsTATC XP_016873279.1:p.Ile420=
XM_017017791.1:c.1259_1262delinsTATC XP_016873280.1:p.Ile420=
XM_017017792.2:c.1259_1262delinsTATC XP_016873281.1:p.Ile420=
XR_002957150.1:n.1992_1995delinsTATC