Canonical Allele Identifier: CA16619187
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 420011
ClinVar RCV Id: RCV000481245 RCV000493466 RCV000697122 RCV001310116
dbSNP Id: rs1064794236
MyVariant Identifiers: chr11:g.108164060_108164063del (hg19) chr11:g.108293333_108293336del (hg38)
PubMed: PMID:9887333 PMID:10980530
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108293333_108293336del , CM000673.2:g.108293333_108293336del GRCh38
NC_000011.9:g.108164060_108164063del , CM000673.1:g.108164060_108164063del GRCh37
NC_000011.8:g.107669270_107669273del NCBI36
NG_009830.1:g.75502_75505del , LRG_135:g.75502_75505del

Transcript Alleles

HGVS Amino-acid change
ENST00000452508.7:c.4632_4635del ENSP00000388058.2:p.Tyr1544Ter
ENST00000713593.1:c.*4103_*4106del ENSP00000518889.1:n.*4103_*4106del
ENST00000278616.9:c.4632_4635del ENSP00000278616.4:p.Tyr1544Ter
ENST00000683174.1:n.4782_4785del
ENST00000527805.6:c.4611+540_4611+543del ENSP00000435747.2:n.4611+540_4611+543del
ENST00000675595.1:c.4467_4470del ENSP00000502563.1:p.Tyr1489Ter
ENST00000675843.1:c.4632_4635del MANE Select ENSP00000501606.1:p.Tyr1544Ter
ENST00000278616.8:c.4632_4635del ENSP00000278616.4:p.Tyr1544Ter
ENST00000452508.6:c.4632_4635del ENSP00000388058.2:p.Tyr1544Ter
ENST00000524792.5:n.847_850del
ENST00000531525.2:c.444-1594_444-1591del ENSP00000434327.2:n.444-1594_444-1591del
NM_000051.3:c.4632_4635del , LRG_135t1:c.4632_4635del NP_000042.3:p.Tyr1544Ter
XM_005271561.3:c.4632_4635del XP_005271618.2:p.Tyr1544Ter
XM_005271562.3:c.4632_4635del XP_005271619.2:p.Tyr1544Ter
XM_006718843.2:c.4632_4635del XP_006718906.1:p.Tyr1544Ter
XM_006718845.1:c.588_591del XP_006718908.1:p.Tyr196Ter
XM_011542840.1:c.4632_4635del XP_011541142.1:p.Tyr1544Ter
XM_011542841.1:c.4632_4635del XP_011541143.1:p.Tyr1544Ter
XM_011542842.1:c.4467_4470del XP_011541144.1:p.Tyr1489Ter
XM_011542843.1:c.4632_4635del XP_011541145.1:p.Tyr1544Ter
XM_011542844.1:c.3588_3591del XP_011541146.1:p.Tyr1196Ter
XM_011542845.1:c.3324_3327del XP_011541147.1:p.Tyr1108Ter
XM_011542846.1:c.4632_4635del XP_011541148.1:p.Tyr1544Ter
NM_001351834.1:c.4632_4635del NP_001338763.1:p.Tyr1544Ter
XM_005271562.5:c.4632_4635del XP_005271619.2:p.Tyr1544Ter
XM_006718843.4:c.4632_4635del XP_006718906.1:p.Tyr1544Ter
XM_006718845.2:c.588_591del XP_006718908.1:p.Tyr196Ter
XM_011542840.3:c.4632_4635del XP_011541142.1:p.Tyr1544Ter
XM_011542842.3:c.4467_4470del XP_011541144.1:p.Tyr1489Ter
XM_011542843.2:c.4632_4635del XP_011541145.1:p.Tyr1544Ter
XM_011542844.3:c.3588_3591del XP_011541146.1:p.Tyr1196Ter
XM_011542845.2:c.3324_3327del XP_011541147.1:p.Tyr1108Ter
XM_017017789.2:c.4632_4635del XP_016873278.1:p.Tyr1544Ter
XM_017017790.2:c.4632_4635del XP_016873279.1:p.Tyr1544Ter
XM_017017791.1:c.4632_4635del XP_016873280.1:p.Tyr1544Ter
XM_017017792.2:c.4632_4635del XP_016873281.1:p.Tyr1544Ter
XR_002957150.1:n.5365_5368del
NM_001351834.2:c.4632_4635del NP_001338763.1:p.Tyr1544Ter
NM_000051.4:c.4632_4635del MANE Select NP_000042.3:p.Tyr1544Ter
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