Canonical Allele Identifier: CA169212
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 142709
ClinVar RCV Id: RCV000132076 RCV000484835 RCV000798600
dbSNP Id: rs587782660
MyVariant Identifiers: chr11:g.108115569_108115572del (hg19) chr11:g.108244842_108244845del (hg38)
PubMed: PMID:16941484 PMID:17124347 PMID:19535770 PMID:19691550
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108244842_108244845del , CM000673.2:g.108244842_108244845del GRCh38
NC_000011.9:g.108115569_108115572del , CM000673.1:g.108115569_108115572del GRCh37
NC_000011.8:g.107620779_107620782del NCBI36
NG_009830.1:g.27011_27014del , LRG_135:g.27011_27014del

Transcript Alleles

HGVS Amino-acid change
ENST00000452508.7:c.717_720del ENSP00000388058.2:p.Phe239LeufsTer15
ENST00000713593.1:c.*188_*191del ENSP00000518889.1:n.*188_*191del
ENST00000278616.9:c.717_720del ENSP00000278616.4:p.Phe239LeufsTer15
ENST00000682430.1:n.816_819del
ENST00000682516.1:n.851_854del
ENST00000682956.1:n.851_854del
ENST00000683100.1:n.3064_3067del
ENST00000683174.1:n.867_870del
ENST00000683605.1:n.212_215del
ENST00000684037.1:c.717_720del ENSP00000508245.1:p.Phe239LeufsTer15
ENST00000684061.1:n.851_854del
ENST00000684179.1:n.686_689del
ENST00000527805.6:c.717_720del ENSP00000435747.2:p.Phe239LeufsTer15
ENST00000675595.1:c.552_555del ENSP00000502563.1:p.Phe184LeufsTer15
ENST00000675843.1:c.717_720del MANE Select ENSP00000501606.1:p.Phe239LeufsTer15
ENST00000278616.8:c.717_720del ENSP00000278616.4:p.Phe239LeufsTer15
ENST00000452508.6:c.717_720del ENSP00000388058.2:p.Phe239LeufsTer15
ENST00000527805.5:c.717_720del ENSP00000435747.1:p.Phe239LeufsTer15
NM_000051.3:c.717_720del , LRG_135t1:c.717_720del NP_000042.3:p.Phe239LeufsTer15
XM_005271561.3:c.717_720del XP_005271618.2:p.Phe239LeufsTer15
XM_005271562.3:c.717_720del XP_005271619.2:p.Phe239LeufsTer15
XM_006718843.2:c.717_720del XP_006718906.1:p.Phe239LeufsTer15
XM_011542840.1:c.717_720del XP_011541142.1:p.Phe239LeufsTer15
XM_011542841.1:c.717_720del XP_011541143.1:p.Phe239LeufsTer15
XM_011542842.1:c.552_555del XP_011541144.1:p.Phe184LeufsTer15
XM_011542843.1:c.717_720del XP_011541145.1:p.Phe239LeufsTer15
XM_011542844.1:c.-328_-325del XP_011541146.1:n.-328_-325del
XM_011542846.1:c.717_720del XP_011541148.1:p.Phe239LeufsTer15
NM_001351834.1:c.717_720del NP_001338763.1:p.Phe239LeufsTer15
XM_005271562.5:c.717_720del XP_005271619.2:p.Phe239LeufsTer15
XM_006718843.4:c.717_720del XP_006718906.1:p.Phe239LeufsTer15
XM_011542840.3:c.717_720del XP_011541142.1:p.Phe239LeufsTer15
XM_011542842.3:c.552_555del XP_011541144.1:p.Phe184LeufsTer15
XM_011542843.2:c.717_720del XP_011541145.1:p.Phe239LeufsTer15
XM_011542844.3:c.-328_-325del XP_011541146.1:n.-328_-325del
XM_017017789.2:c.717_720del XP_016873278.1:p.Phe239LeufsTer15
XM_017017790.2:c.717_720del XP_016873279.1:p.Phe239LeufsTer15
XM_017017791.1:c.717_720del XP_016873280.1:p.Phe239LeufsTer15
XM_017017792.2:c.717_720del XP_016873281.1:p.Phe239LeufsTer15
XR_002957150.1:n.1450_1453del
NM_001351834.2:c.717_720del NP_001338763.1:p.Phe239LeufsTer15
NM_000051.4:c.717_720del MANE Select NP_000042.3:p.Phe239LeufsTer15
Search 100 bp 5'
Search 100 bp 3'