Canonical Allele Identifier: CA6265673
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 414543
dbSNP Id: rs375051697

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108301797A>G , CM000673.2:g.108301797A>G GRCh38
NC_000011.9:g.108172524A>G , CM000673.1:g.108172524A>G GRCh37
NC_000011.8:g.107677734A>G NCBI36
NG_009830.1:g.83966A>G , LRG_135:g.83966A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000452508.7:c.5319+8A>G ENSP00000388058.2:n.5319+8A>G
ENST00000713593.1:c.*4790+8A>G ENSP00000518889.1:n.*4790+8A>G
ENST00000278616.9:c.5319+8A>G ENSP00000278616.4:n.5319+8A>G
ENST00000683174.1:n.6803+8A>G
ENST00000683524.1:n.543+8A>G
ENST00000684152.1:n.1033+8A>G
ENST00000527805.6:c.*383+8A>G ENSP00000435747.2:n.*383+8A>G
ENST00000675595.1:c.*383+8A>G ENSP00000502563.1:n.*383+8A>G
ENST00000675843.1:c.5319+8A>G MANE Select ENSP00000501606.1:n.5319+8A>G
ENST00000278616.8:c.5319+8A>G ENSP00000278616.4:n.5319+8A>G
ENST00000452508.6:c.5319+8A>G ENSP00000388058.2:n.5319+8A>G
ENST00000524792.5:n.1534+8A>G
ENST00000533690.5:n.723+8A>G
ENST00000534625.1:n.548+8A>G
NM_000051.3:c.5319+8A>G , LRG_135t1:c.5319+8A>G NP_000042.3:n.5319+8A>G
XM_005271561.3:c.5319+8A>G XP_005271618.2:n.5319+8A>G
XM_005271562.3:c.5319+8A>G XP_005271619.2:n.5319+8A>G
XM_006718843.2:c.5319+8A>G XP_006718906.1:n.5319+8A>G
XM_006718845.1:c.1275+8A>G XP_006718908.1:n.1275+8A>G
XM_011542840.1:c.5319+8A>G XP_011541142.1:n.5319+8A>G
XM_011542841.1:c.5319+8A>G XP_011541143.1:n.5319+8A>G
XM_011542842.1:c.5154+8A>G XP_011541144.1:n.5154+8A>G
XM_011542843.1:c.5319+8A>G XP_011541145.1:n.5319+8A>G
XM_011542844.1:c.4275+8A>G XP_011541146.1:n.4275+8A>G
XM_011542845.1:c.4011+8A>G XP_011541147.1:n.4011+8A>G
XM_011542846.1:c.5318+9A>G XP_011541148.1:n.5318+9A>G
XM_011542847.1:c.390+8A>G XP_011541149.1:n.390+8A>G
NM_001351834.1:c.5319+8A>G NP_001338763.1:n.5319+8A>G
XM_005271562.5:c.5319+8A>G XP_005271619.2:n.5319+8A>G
XM_006718843.4:c.5319+8A>G XP_006718906.1:n.5319+8A>G
XM_006718845.2:c.1275+8A>G XP_006718908.1:n.1275+8A>G
XM_011542840.3:c.5319+8A>G XP_011541142.1:n.5319+8A>G
XM_011542842.3:c.5154+8A>G XP_011541144.1:n.5154+8A>G
XM_011542843.2:c.5319+8A>G XP_011541145.1:n.5319+8A>G
XM_011542844.3:c.4275+8A>G XP_011541146.1:n.4275+8A>G
XM_011542845.2:c.4011+8A>G XP_011541147.1:n.4011+8A>G
XM_017017789.2:c.5319+8A>G XP_016873278.1:n.5319+8A>G
XM_017017790.2:c.5319+8A>G XP_016873279.1:n.5319+8A>G
XM_017017791.1:c.5319+8A>G XP_016873280.1:n.5319+8A>G
XM_017017792.2:c.5327A>G XP_016873281.1:p.Ter1776=
XR_002957150.1:n.5919+8A>G
NM_001351834.2:c.5319+8A>G NP_001338763.1:n.5319+8A>G
NM_000051.4:c.5319+8A>G MANE Select NP_000042.3:n.5319+8A>G