Canonical Allele Identifier: CA16043454
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 374194
ClinVar RCV Id: RCV000415022 RCV000798055 RCV001025773 RCV001310113
dbSNP Id: rs1057518965
gnomAD v4: 11-108244811-TA-T
MyVariant Identifiers: chr11:g.108115539del (hg19) chr11:g.108244812del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108244814del , CM000673.2:g.108244814del GRCh38
NC_000011.9:g.108115541del , CM000673.1:g.108115541del GRCh37
NC_000011.8:g.107620751del NCBI36
NG_009830.1:g.26983del , LRG_135:g.26983del

Transcript Alleles

HGVS Amino-acid change
ENST00000452508.7:c.689del ENSP00000388058.2:p.Asn230IlefsTer4
ENST00000713593.1:c.*160del ENSP00000518889.1:n.*160del
ENST00000278616.9:c.689del ENSP00000278616.4:p.Asn230IlefsTer4
ENST00000682430.1:n.788del
ENST00000682516.1:n.823del
ENST00000682956.1:n.823del
ENST00000683100.1:n.3036del
ENST00000683174.1:n.839del
ENST00000683605.1:n.184del
ENST00000684037.1:c.689del ENSP00000508245.1:p.Asn230IlefsTer4
ENST00000684061.1:n.823del
ENST00000684179.1:n.658del
ENST00000527805.6:c.689del ENSP00000435747.2:p.Asn230IlefsTer4
ENST00000675595.1:c.524del ENSP00000502563.1:p.Asn175IlefsTer4
ENST00000675843.1:c.689del MANE Select ENSP00000501606.1:p.Asn230IlefsTer4
ENST00000278616.8:c.689del ENSP00000278616.4:p.Asn230IlefsTer4
ENST00000452508.6:c.689del ENSP00000388058.2:p.Asn230IlefsTer4
ENST00000527805.5:c.689del ENSP00000435747.1:p.Asn230IlefsTer4
NM_000051.3:c.689del , LRG_135t1:c.689del NP_000042.3:p.Asn230IlefsTer4
XM_005271561.3:c.689del XP_005271618.2:p.Asn230IlefsTer4
XM_005271562.3:c.689del XP_005271619.2:p.Asn230IlefsTer4
XM_006718843.2:c.689del XP_006718906.1:p.Asn230IlefsTer4
XM_011542840.1:c.689del XP_011541142.1:p.Asn230IlefsTer4
XM_011542841.1:c.689del XP_011541143.1:p.Asn230IlefsTer4
XM_011542842.1:c.524del XP_011541144.1:p.Asn175IlefsTer4
XM_011542843.1:c.689del XP_011541145.1:p.Asn230IlefsTer4
XM_011542844.1:c.-356del XP_011541146.1:n.-356del
XM_011542846.1:c.689del XP_011541148.1:p.Asn230IlefsTer4
NM_001351834.1:c.689del NP_001338763.1:p.Asn230IlefsTer4
XM_005271562.5:c.689del XP_005271619.2:p.Asn230IlefsTer4
XM_006718843.4:c.689del XP_006718906.1:p.Asn230IlefsTer4
XM_011542840.3:c.689del XP_011541142.1:p.Asn230IlefsTer4
XM_011542842.3:c.524del XP_011541144.1:p.Asn175IlefsTer4
XM_011542843.2:c.689del XP_011541145.1:p.Asn230IlefsTer4
XM_011542844.3:c.-356del XP_011541146.1:n.-356del
XM_017017789.2:c.689del XP_016873278.1:p.Asn230IlefsTer4
XM_017017790.2:c.689del XP_016873279.1:p.Asn230IlefsTer4
XM_017017791.1:c.689del XP_016873280.1:p.Asn230IlefsTer4
XM_017017792.2:c.689del XP_016873281.1:p.Asn230IlefsTer4
XR_002957150.1:n.1422del
NM_001351834.2:c.689del NP_001338763.1:p.Asn230IlefsTer4
NM_000051.4:c.689del MANE Select NP_000042.3:p.Asn230IlefsTer4
Search 100 bp 5'
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