Canonical Allele Identifier: CA313615291
Gene: CST3 HGNC NCBI

Linked Data

dbSNP Id: rs879105865
MyVariant Identifiers: chr20:g.23618254del (hg19) chr20:g.23637617del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23637617del , CM000682.2:g.23637617del GRCh38
NC_000020.10:g.23618254del , CM000682.1:g.23618254del GRCh37
NC_000020.9:g.23566254del NCBI36
NG_012887.2:g.5321del
NG_012887.3:g.5321del

Transcript Alleles

HGVS Amino-acid Change
ENST00000376925.8:c.243+3del MANE Select ENSP00000366124.3:n.243+3del
ENST00000376925.7:c.243+3del ENSP00000366124.3:n.243+3del
ENST00000398409.1:c.243+3del ENSP00000381446.1:n.243+3del
ENST00000398411.5:c.243+3del ENSP00000381448.1:n.243+3del
NM_000099.3:c.243+3del NP_000090.1:n.243+3del
NM_001288614.1:c.243+3del NP_001275543.1:n.243+3del
NM_000099.4:c.243+3del MANE Select NP_000090.1:n.243+3del
NM_001288614.2:c.243+3del NP_001275543.1:n.243+3del
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