Canonical Allele Identifier: CA9790272

Gene: CST3

Linked Data

• dbSNP Id: rs756978090
• ExAC: 20:23618436 T / TCACGGCCAGGGC
• gnomAD v2: 20-23618436-T-TCACGGCCAGGGC
• gnomAD v3: 20-23637799-T-TCACGGCCAGGGC
• gnomAD v4: 20-23637799-T-TCACGGCCAGGGC
• MyVariant Identifiers: chr20:g.23618448_23618449insCACGGCCAGGGC (hg19) ; chr20:g.23618436_23618437insCACGGCCAGGGC (hg19) ; chr20:g.23637799_23637800insCACGGCCAGGGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.23637810_23637821dup , CM000682.2:g.23637810_23637821dup	GRCh38
NC_000020.10:g.23618447_23618458dup , CM000682.1:g.23618447_23618458dup	GRCh37
NC_000020.9:g.23566447_23566458dup	NCBI36
NG_012887.2:g.5127_5138dup
NG_012887.3:g.5127_5138dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376925.8:c.52_63dup MANE Select	ENSP00000366124.3:p.Val21_Ser22insAlaLeuAlaVal
ENST00000376925.7:c.52_63dup	ENSP00000366124.3:p.Val21_Ser22insAlaLeuAlaVal
ENST00000398409.1:c.52_63dup	ENSP00000381446.1:p.Val21_Ser22insAlaLeuAlaVal
ENST00000398411.5:c.52_63dup	ENSP00000381448.1:p.Val21_Ser22insAlaLeuAlaVal
NM_000099.3:c.52_63dup	NP_000090.1:p.Val21_Ser22insAlaLeuAlaVal
NM_001288614.1:c.52_63dup	NP_001275543.1:p.Val21_Ser22insAlaLeuAlaVal
NM_000099.4:c.52_63dup MANE Select	NP_000090.1:p.Val21_Ser22insAlaLeuAlaVal
NM_001288614.2:c.52_63dup	NP_001275543.1:p.Val21_Ser22insAlaLeuAlaVal