Canonical Allele Identifier: CA16619160
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 422868
ClinVar RCV Id: RCV000484530 RCV003168970
dbSNP Id: rs1064796055
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108279555_108279561delinsTAAACAT , CM000673.2:g.108279555_108279561delinsTAAACAT GRCh38
NC_000011.9:g.108150282_108150288delinsTAAACAT , CM000673.1:g.108150282_108150288delinsTAAACAT GRCh37
NC_000011.8:g.107655492_107655498delinsTAAACAT NCBI36
NG_009830.1:g.61724_61730delinsTAAACAT , LRG_135:g.61724_61730delinsTAAACAT

Transcript Alleles

HGVS Amino-acid change
ENST00000452508.7:c.3349_3355delinsTAAACAT ENSP00000388058.2:p.Gln1117Ter
ENST00000713593.1:c.*2820_*2826delinsTAAACAT ENSP00000518889.1:n.*2820_*2826delinsTAAA...
ENST00000278616.9:c.3349_3355delinsTAAACAT ENSP00000278616.4:p.Gln1117Ter
ENST00000683174.1:n.3499_3505delinsTAAACAT
ENST00000527805.6:c.3349_3355delinsTAAACAT ENSP00000435747.2:p.Gln1117Ter
ENST00000675595.1:c.3184_3190delinsTAAACAT ENSP00000502563.1:p.Gln1062Ter
ENST00000675843.1:c.3349_3355delinsTAAACAT MANE Select ENSP00000501606.1:p.Gln1117Ter
ENST00000278616.8:c.3349_3355delinsTAAACAT ENSP00000278616.4:p.Gln1117Ter
ENST00000452508.6:c.3349_3355delinsTAAACAT ENSP00000388058.2:p.Gln1117Ter
ENST00000527805.5:c.3349_3355delinsTAAACAT ENSP00000435747.1:p.Gln1117Ter
NM_000051.3:c.3349_3355delinsTAAACAT , LRG_135t1:c.3349_3355delinsTAAACAT NP_000042.3:p.Gln1117Ter
XM_005271561.3:c.3349_3355delinsTAAACAT XP_005271618.2:p.Gln1117Ter
XM_005271562.3:c.3349_3355delinsTAAACAT XP_005271619.2:p.Gln1117Ter
XM_006718843.2:c.3349_3355delinsTAAACAT XP_006718906.1:p.Gln1117Ter
XM_011542840.1:c.3349_3355delinsTAAACAT XP_011541142.1:p.Gln1117Ter
XM_011542841.1:c.3349_3355delinsTAAACAT XP_011541143.1:p.Gln1117Ter
XM_011542842.1:c.3184_3190delinsTAAACAT XP_011541144.1:p.Gln1062Ter
XM_011542843.1:c.3349_3355delinsTAAACAT XP_011541145.1:p.Gln1117Ter
XM_011542844.1:c.2305_2311delinsTAAACAT XP_011541146.1:p.Gln769Ter
XM_011542845.1:c.2041_2047delinsTAAACAT XP_011541147.1:p.Gln681Ter
XM_011542846.1:c.3349_3355delinsTAAACAT XP_011541148.1:p.Gln1117Ter
NM_001351834.1:c.3349_3355delinsTAAACAT NP_001338763.1:p.Gln1117Ter
XM_005271562.5:c.3349_3355delinsTAAACAT XP_005271619.2:p.Gln1117Ter
XM_006718843.4:c.3349_3355delinsTAAACAT XP_006718906.1:p.Gln1117Ter
XM_011542840.3:c.3349_3355delinsTAAACAT XP_011541142.1:p.Gln1117Ter
XM_011542842.3:c.3184_3190delinsTAAACAT XP_011541144.1:p.Gln1062Ter
XM_011542843.2:c.3349_3355delinsTAAACAT XP_011541145.1:p.Gln1117Ter
XM_011542844.3:c.2305_2311delinsTAAACAT XP_011541146.1:p.Gln769Ter
XM_011542845.2:c.2041_2047delinsTAAACAT XP_011541147.1:p.Gln681Ter
XM_017017789.2:c.3349_3355delinsTAAACAT XP_016873278.1:p.Gln1117Ter
XM_017017790.2:c.3349_3355delinsTAAACAT XP_016873279.1:p.Gln1117Ter
XM_017017791.1:c.3349_3355delinsTAAACAT XP_016873280.1:p.Gln1117Ter
XM_017017792.2:c.3349_3355delinsTAAACAT XP_016873281.1:p.Gln1117Ter
XR_002957150.1:n.4082_4088delinsTAAACAT
NM_001351834.2:c.3349_3355delinsTAAACAT NP_001338763.1:p.Gln1117Ter
NM_000051.4:c.3349_3355delinsTAAACAT MANE Select NP_000042.3:p.Gln1117Ter
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