Canonical Allele Identifier: CA1998777237
Gene: ATM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108258965_108258969delinsCTTTG , CM000673.2:g.108258965_108258969delinsCTTTG GRCh38
NC_000011.9:g.108129692_108129696delinsCTTTG , CM000673.1:g.108129692_108129696delinsCTTTG GRCh37
NC_000011.8:g.107634902_107634906delinsCTTTG NCBI36
NG_009830.1:g.41134_41138delinsCTTTG , LRG_135:g.41134_41138delinsCTTTG

Transcript Alleles

HGVS Amino-acid change
ENST00000452508.7:c.2377-21_2377-17delinsCTTTG ENSP00000388058.2:n.2377-21_2377-17delins...
ENST00000713593.1:c.*1848-21_*1848-17delinsCTTTG ENSP00000518889.1:n.*1848-21_*1848-17deli...
ENST00000278616.9:c.2377-21_2377-17delinsCTTTG ENSP00000278616.4:n.2377-21_2377-17delins...
ENST00000682516.1:n.2511-21_2511-17delinsCTTTG
ENST00000683174.1:n.2527-21_2527-17delinsCTTTG
ENST00000683605.1:n.1872-21_1872-17delinsCTTTG
ENST00000684037.1:c.*1312-21_*1312-17delinsCTTTG ENSP00000508245.1:n.*1312-21_*1312-17deli...
ENST00000527805.6:c.2377-21_2377-17delinsCTTTG ENSP00000435747.2:n.2377-21_2377-17delins...
ENST00000675595.1:c.2212-21_2212-17delinsCTTTG ENSP00000502563.1:n.2212-21_2212-17delins...
ENST00000675843.1:c.2377-21_2377-17delinsCTTTG MANE Select ENSP00000501606.1:n.2377-21_2377-17delins...
ENST00000278616.8:c.2377-21_2377-17delinsCTTTG ENSP00000278616.4:n.2377-21_2377-17delins...
ENST00000452508.6:c.2377-21_2377-17delinsCTTTG ENSP00000388058.2:n.2377-21_2377-17delins...
ENST00000527805.5:c.2377-21_2377-17delinsCTTTG ENSP00000435747.1:n.2377-21_2377-17delins...
NM_000051.3:c.2377-21_2377-17delinsCTTTG , LRG_135t1:c.2377-21_2377-17delinsCTTTG NP_000042.3:n.2377-21_2377-17delinsCTTTG
XM_005271561.3:c.2377-21_2377-17delinsCTTTG XP_005271618.2:n.2377-21_2377-17delinsCTT...
XM_005271562.3:c.2377-21_2377-17delinsCTTTG XP_005271619.2:n.2377-21_2377-17delinsCTT...
XM_006718843.2:c.2377-21_2377-17delinsCTTTG XP_006718906.1:n.2377-21_2377-17delinsCTT...
XM_011542840.1:c.2377-21_2377-17delinsCTTTG XP_011541142.1:n.2377-21_2377-17delinsCTT...
XM_011542841.1:c.2377-21_2377-17delinsCTTTG XP_011541143.1:n.2377-21_2377-17delinsCTT...
XM_011542842.1:c.2212-21_2212-17delinsCTTTG XP_011541144.1:n.2212-21_2212-17delinsCTT...
XM_011542843.1:c.2377-21_2377-17delinsCTTTG XP_011541145.1:n.2377-21_2377-17delinsCTT...
XM_011542844.1:c.1333-21_1333-17delinsCTTTG XP_011541146.1:n.1333-21_1333-17delinsCTT...
XM_011542845.1:c.1069-21_1069-17delinsCTTTG XP_011541147.1:n.1069-21_1069-17delinsCTT...
XM_011542846.1:c.2377-21_2377-17delinsCTTTG XP_011541148.1:n.2377-21_2377-17delinsCTT...
NM_001351834.1:c.2377-21_2377-17delinsCTTTG NP_001338763.1:n.2377-21_2377-17delinsCTT...
XM_005271562.5:c.2377-21_2377-17delinsCTTTG XP_005271619.2:n.2377-21_2377-17delinsCTT...
XM_006718843.4:c.2377-21_2377-17delinsCTTTG XP_006718906.1:n.2377-21_2377-17delinsCTT...
XM_011542840.3:c.2377-21_2377-17delinsCTTTG XP_011541142.1:n.2377-21_2377-17delinsCTT...
XM_011542842.3:c.2212-21_2212-17delinsCTTTG XP_011541144.1:n.2212-21_2212-17delinsCTT...
XM_011542843.2:c.2377-21_2377-17delinsCTTTG XP_011541145.1:n.2377-21_2377-17delinsCTT...
XM_011542844.3:c.1333-21_1333-17delinsCTTTG XP_011541146.1:n.1333-21_1333-17delinsCTT...
XM_011542845.2:c.1069-21_1069-17delinsCTTTG XP_011541147.1:n.1069-21_1069-17delinsCTT...
XM_017017789.2:c.2377-21_2377-17delinsCTTTG XP_016873278.1:n.2377-21_2377-17delinsCTT...
XM_017017790.2:c.2377-21_2377-17delinsCTTTG XP_016873279.1:n.2377-21_2377-17delinsCTT...
XM_017017791.1:c.2377-21_2377-17delinsCTTTG XP_016873280.1:n.2377-21_2377-17delinsCTT...
XM_017017792.2:c.2377-21_2377-17delinsCTTTG XP_016873281.1:n.2377-21_2377-17delinsCTT...
XR_002957150.1:n.3110-21_3110-17delinsCTTTG
NM_001351834.2:c.2377-21_2377-17delinsCTTTG NP_001338763.1:n.2377-21_2377-17delinsCTT...
NM_000051.4:c.2377-21_2377-17delinsCTTTG MANE Select NP_000042.3:n.2377-21_2377-17delinsCTTTG