Canonical Allele Identifier: CA2815583488
Gene: CST3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.23637636_23637637insGGGGC , CM000682.2:g.23637636_23637637insGGGGC GRCh38
NC_000020.10:g.23618273_23618274insGGGGC , CM000682.1:g.23618273_23618274insGGGGC GRCh37
NC_000020.9:g.23566273_23566274insGGGGC NCBI36
NG_012887.2:g.5301_5302insGCCCC
NG_012887.3:g.5301_5302insGCCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000376925.8:c.226_227insGCCCC MANE Select ENSP00000366124.3:p.Val76GlyfsTer10
ENST00000376925.7:c.226_227insGCCCC ENSP00000366124.3:p.Val76GlyfsTer10
ENST00000398409.1:c.226_227insGCCCC ENSP00000381446.1:p.Val76GlyfsTer10
ENST00000398411.5:c.226_227insGCCCC ENSP00000381448.1:p.Val76GlyfsTer10
NM_000099.3:c.226_227insGCCCC NP_000090.1:p.Val76GlyfsTer10
NM_001288614.1:c.226_227insGCCCC NP_001275543.1:p.Val76GlyfsTer10
NM_000099.4:c.226_227insGCCCC MANE Select NP_000090.1:p.Val76GlyfsTer10
NM_001288614.2:c.226_227insGCCCC NP_001275543.1:p.Val76GlyfsTer10