Canonical Allele Identifier: CA10579158
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 232070
ClinVar RCV Id: RCV000214019 RCV000627874 RCV001357910
dbSNP Id: rs876659535
MyVariant Identifiers: chr11:g.108164070_108164073del (hg19) chr11:g.108293343_108293346del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.108293343_108293346del , CM000673.2:g.108293343_108293346del GRCh38
NC_000011.9:g.108164070_108164073del , CM000673.1:g.108164070_108164073del GRCh37
NC_000011.8:g.107669280_107669283del NCBI36
NG_009830.1:g.75512_75515del , LRG_135:g.75512_75515del

Transcript Alleles

HGVS Amino-acid change
ENST00000452508.7:c.4642_4645del ENSP00000388058.2:p.Asp1548ThrfsTer14
ENST00000713593.1:c.*4113_*4116del ENSP00000518889.1:n.*4113_*4116del
ENST00000278616.9:c.4642_4645del ENSP00000278616.4:p.Asp1548ThrfsTer14
ENST00000683174.1:n.4792_4795del
ENST00000527805.6:c.4611+550_4611+553del ENSP00000435747.2:n.4611+550_4611+553del
ENST00000675595.1:c.4477_4480del ENSP00000502563.1:p.Asp1493ThrfsTer14
ENST00000675843.1:c.4642_4645del MANE Select ENSP00000501606.1:p.Asp1548ThrfsTer14
ENST00000278616.8:c.4642_4645del ENSP00000278616.4:p.Asp1548ThrfsTer14
ENST00000452508.6:c.4642_4645del ENSP00000388058.2:p.Asp1548ThrfsTer14
ENST00000524792.5:n.857_860del
ENST00000531525.2:c.444-1584_444-1581del ENSP00000434327.2:n.444-1584_444-1581del
NM_000051.3:c.4642_4645del , LRG_135t1:c.4642_4645del NP_000042.3:p.Asp1548ThrfsTer14
XM_005271561.3:c.4642_4645del XP_005271618.2:p.Asp1548ThrfsTer14
XM_005271562.3:c.4642_4645del XP_005271619.2:p.Asp1548ThrfsTer14
XM_006718843.2:c.4642_4645del XP_006718906.1:p.Asp1548ThrfsTer14
XM_006718845.1:c.598_601del XP_006718908.1:p.Asp200ThrfsTer14
XM_011542840.1:c.4642_4645del XP_011541142.1:p.Asp1548ThrfsTer14
XM_011542841.1:c.4642_4645del XP_011541143.1:p.Asp1548ThrfsTer14
XM_011542842.1:c.4477_4480del XP_011541144.1:p.Asp1493ThrfsTer14
XM_011542843.1:c.4642_4645del XP_011541145.1:p.Asp1548ThrfsTer14
XM_011542844.1:c.3598_3601del XP_011541146.1:p.Asp1200ThrfsTer14
XM_011542845.1:c.3334_3337del XP_011541147.1:p.Asp1112ThrfsTer14
XM_011542846.1:c.4642_4645del XP_011541148.1:p.Asp1548ThrfsTer14
NM_001351834.1:c.4642_4645del NP_001338763.1:p.Asp1548ThrfsTer14
XM_005271562.5:c.4642_4645del XP_005271619.2:p.Asp1548ThrfsTer14
XM_006718843.4:c.4642_4645del XP_006718906.1:p.Asp1548ThrfsTer14
XM_006718845.2:c.598_601del XP_006718908.1:p.Asp200ThrfsTer14
XM_011542840.3:c.4642_4645del XP_011541142.1:p.Asp1548ThrfsTer14
XM_011542842.3:c.4477_4480del XP_011541144.1:p.Asp1493ThrfsTer14
XM_011542843.2:c.4642_4645del XP_011541145.1:p.Asp1548ThrfsTer14
XM_011542844.3:c.3598_3601del XP_011541146.1:p.Asp1200ThrfsTer14
XM_011542845.2:c.3334_3337del XP_011541147.1:p.Asp1112ThrfsTer14
XM_017017789.2:c.4642_4645del XP_016873278.1:p.Asp1548ThrfsTer14
XM_017017790.2:c.4642_4645del XP_016873279.1:p.Asp1548ThrfsTer14
XM_017017791.1:c.4642_4645del XP_016873280.1:p.Asp1548ThrfsTer14
XM_017017792.2:c.4642_4645del XP_016873281.1:p.Asp1548ThrfsTer14
XR_002957150.1:n.5375_5378del
NM_001351834.2:c.4642_4645del NP_001338763.1:p.Asp1548ThrfsTer14
NM_000051.4:c.4642_4645del MANE Select NP_000042.3:p.Asp1548ThrfsTer14
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