Canonical Allele Identifier: CA2793552429
Gene: ATM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108267509_108267510insG , CM000673.2:g.108267509_108267510insG GRCh38
NC_000011.9:g.108138236_108138237insG , CM000673.1:g.108138236_108138237insG GRCh37
NC_000011.8:g.107643446_107643447insG NCBI36
NG_009830.1:g.49678_49679insG , LRG_135:g.49678_49679insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.2638+167_2638+168insG ENSP00000388058.2:n.2638+167_2638+168insG
ENST00000713593.1:c.*2109+167_*2109+168insG ENSP00000518889.1:n.*2109+167_*2109+168insG
ENST00000278616.9:c.2638+167_2638+168insG ENSP00000278616.4:n.2638+167_2638+168insG
ENST00000682516.1:n.2772+167_2772+168insG
ENST00000683174.1:n.2788+167_2788+168insG
ENST00000683605.1:n.2300_2301insG
ENST00000684037.1:c.*1573+167_*1573+168insG ENSP00000508245.1:n.*1573+167_*1573+168insG
ENST00000527805.6:c.2638+167_2638+168insG ENSP00000435747.2:n.2638+167_2638+168insG
ENST00000675595.1:c.2473+167_2473+168insG ENSP00000502563.1:n.2473+167_2473+168insG
ENST00000675843.1:c.2638+167_2638+168insG MANE Select ENSP00000501606.1:n.2638+167_2638+168insG
ENST00000278616.8:c.2638+167_2638+168insG ENSP00000278616.4:n.2638+167_2638+168insG
ENST00000452508.6:c.2638+167_2638+168insG ENSP00000388058.2:n.2638+167_2638+168insG
ENST00000527805.5:c.2638+167_2638+168insG ENSP00000435747.1:n.2638+167_2638+168insG
NM_000051.3:c.2638+167_2638+168insG , LRG_135t1:c.2638+167_2638+168insG NP_000042.3:n.2638+167_2638+168insG
XM_005271561.3:c.2638+167_2638+168insG XP_005271618.2:n.2638+167_2638+168insG
XM_005271562.3:c.2638+167_2638+168insG XP_005271619.2:n.2638+167_2638+168insG
XM_006718843.2:c.2638+167_2638+168insG XP_006718906.1:n.2638+167_2638+168insG
XM_011542840.1:c.2638+167_2638+168insG XP_011541142.1:n.2638+167_2638+168insG
XM_011542841.1:c.2638+167_2638+168insG XP_011541143.1:n.2638+167_2638+168insG
XM_011542842.1:c.2473+167_2473+168insG XP_011541144.1:n.2473+167_2473+168insG
XM_011542843.1:c.2638+167_2638+168insG XP_011541145.1:n.2638+167_2638+168insG
XM_011542844.1:c.1594+167_1594+168insG XP_011541146.1:n.1594+167_1594+168insG
XM_011542845.1:c.1330+167_1330+168insG XP_011541147.1:n.1330+167_1330+168insG
XM_011542846.1:c.2638+167_2638+168insG XP_011541148.1:n.2638+167_2638+168insG
NM_001351834.1:c.2638+167_2638+168insG NP_001338763.1:n.2638+167_2638+168insG
XM_005271562.5:c.2638+167_2638+168insG XP_005271619.2:n.2638+167_2638+168insG
XM_006718843.4:c.2638+167_2638+168insG XP_006718906.1:n.2638+167_2638+168insG
XM_011542840.3:c.2638+167_2638+168insG XP_011541142.1:n.2638+167_2638+168insG
XM_011542842.3:c.2473+167_2473+168insG XP_011541144.1:n.2473+167_2473+168insG
XM_011542843.2:c.2638+167_2638+168insG XP_011541145.1:n.2638+167_2638+168insG
XM_011542844.3:c.1594+167_1594+168insG XP_011541146.1:n.1594+167_1594+168insG
XM_011542845.2:c.1330+167_1330+168insG XP_011541147.1:n.1330+167_1330+168insG
XM_017017789.2:c.2638+167_2638+168insG XP_016873278.1:n.2638+167_2638+168insG
XM_017017790.2:c.2638+167_2638+168insG XP_016873279.1:n.2638+167_2638+168insG
XM_017017791.1:c.2638+167_2638+168insG XP_016873280.1:n.2638+167_2638+168insG
XM_017017792.2:c.2638+167_2638+168insG XP_016873281.1:n.2638+167_2638+168insG
XR_002957150.1:n.3371+167_3371+168insG
NM_001351834.2:c.2638+167_2638+168insG NP_001338763.1:n.2638+167_2638+168insG
NM_000051.4:c.2638+167_2638+168insG MANE Select NP_000042.3:n.2638+167_2638+168insG