Canonical Allele Identifier: CA16613046
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 407482
ClinVar RCV Id: RCV000464318 RCV000657607 RCV001022283
dbSNP Id: rs1060501551
gnomAD v4: 11-108289683-A-T
MyVariant Identifiers: chr11:g.108160410A>T (hg19) chr11:g.108289683A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108289683A>T , CM000673.2:g.108289683A>T GRCh38
NC_000011.9:g.108160410A>T , CM000673.1:g.108160410A>T GRCh37
NC_000011.8:g.107665620A>T NCBI36
NG_009830.1:g.71852A>T , LRG_135:g.71852A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000452508.7:c.4318A>T ENSP00000388058.2:p.Lys1440Ter
ENST00000713593.1:c.*3789A>T ENSP00000518889.1:n.*3789A>T
ENST00000278616.9:c.4318A>T ENSP00000278616.4:p.Lys1440Ter
ENST00000533733.6:n.1581A>T
ENST00000683174.1:n.4468A>T
ENST00000527805.6:c.4318A>T ENSP00000435747.2:p.Lys1440Ter
ENST00000675595.1:c.4153A>T ENSP00000502563.1:p.Lys1385Ter
ENST00000675843.1:c.4318A>T MANE Select ENSP00000501606.1:p.Lys1440Ter
ENST00000278616.8:c.4318A>T ENSP00000278616.4:p.Lys1440Ter
ENST00000452508.6:c.4318A>T ENSP00000388058.2:p.Lys1440Ter
ENST00000524792.5:n.533A>T
ENST00000531525.2:c.325A>T ENSP00000434327.2:p.Lys109Ter
ENST00000533733.5:n.747A>T
NM_000051.3:c.4318A>T , LRG_135t1:c.4318A>T NP_000042.3:p.Lys1440Ter
XM_005271561.3:c.4318A>T XP_005271618.2:p.Lys1440Ter
XM_005271562.3:c.4318A>T XP_005271619.2:p.Lys1440Ter
XM_006718843.2:c.4318A>T XP_006718906.1:p.Lys1440Ter
XM_006718845.1:c.274A>T XP_006718908.1:p.Lys92Ter
XM_011542840.1:c.4318A>T XP_011541142.1:p.Lys1440Ter
XM_011542841.1:c.4318A>T XP_011541143.1:p.Lys1440Ter
XM_011542842.1:c.4153A>T XP_011541144.1:p.Lys1385Ter
XM_011542843.1:c.4318A>T XP_011541145.1:p.Lys1440Ter
XM_011542844.1:c.3274A>T XP_011541146.1:p.Lys1092Ter
XM_011542845.1:c.3010A>T XP_011541147.1:p.Lys1004Ter
XM_011542846.1:c.4318A>T XP_011541148.1:p.Lys1440Ter
NM_001351834.1:c.4318A>T NP_001338763.1:p.Lys1440Ter
XM_005271562.5:c.4318A>T XP_005271619.2:p.Lys1440Ter
XM_006718843.4:c.4318A>T XP_006718906.1:p.Lys1440Ter
XM_006718845.2:c.274A>T XP_006718908.1:p.Lys92Ter
XM_011542840.3:c.4318A>T XP_011541142.1:p.Lys1440Ter
XM_011542842.3:c.4153A>T XP_011541144.1:p.Lys1385Ter
XM_011542843.2:c.4318A>T XP_011541145.1:p.Lys1440Ter
XM_011542844.3:c.3274A>T XP_011541146.1:p.Lys1092Ter
XM_011542845.2:c.3010A>T XP_011541147.1:p.Lys1004Ter
XM_017017789.2:c.4318A>T XP_016873278.1:p.Lys1440Ter
XM_017017790.2:c.4318A>T XP_016873279.1:p.Lys1440Ter
XM_017017791.1:c.4318A>T XP_016873280.1:p.Lys1440Ter
XM_017017792.2:c.4318A>T XP_016873281.1:p.Lys1440Ter
XR_002957150.1:n.5051A>T
NM_001351834.2:c.4318A>T NP_001338763.1:p.Lys1440Ter
NM_000051.4:c.4318A>T MANE Select NP_000042.3:p.Lys1440Ter
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