Canonical Allele Identifier: CA2355967104
Gene: CST3 HGNC NCBI

Linked Data

dbSNP Id: rs1979746298
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23637712_23637720del , CM000682.2:g.23637712_23637720del GRCh38
NC_000020.10:g.23618349_23618357del , CM000682.1:g.23618349_23618357del GRCh37
NC_000020.9:g.23566349_23566357del NCBI36
NG_012887.2:g.5221_5229del
NG_012887.3:g.5221_5229del

Transcript Alleles

HGVS Amino-acid Change
ENST00000376925.8:c.146_154del MANE Select ENSP00000366124.3:p.Val49_Arg51del
ENST00000376925.7:c.146_154del ENSP00000366124.3:p.Val49_Arg51del
ENST00000398409.1:c.146_154del ENSP00000381446.1:p.Val49_Arg51del
ENST00000398411.5:c.146_154del ENSP00000381448.1:p.Val49_Arg51del
NM_000099.3:c.146_154del NP_000090.1:p.Val49_Arg51del
NM_001288614.1:c.146_154del NP_001275543.1:p.Val49_Arg51del
NM_000099.4:c.146_154del MANE Select NP_000090.1:p.Val49_Arg51del
NM_001288614.2:c.146_154del NP_001275543.1:p.Val49_Arg51del
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