Canonical Allele Identifier: CA546661848

Gene: PCCB

Linked Data

• dbSNP Id: rs1553774884
• gnomAD v2: 3-135980847-T-TG
• gnomAD v4: 3-136262005-T-TG
• MyVariant Identifiers: chr3:g.135980848_135980849insG (hg19) ; chr3:g.136262006_136262007insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136262010dup , CM000665.2:g.136262010dup	GRCh38
NC_000003.11:g.135980852dup , CM000665.1:g.135980852dup	GRCh37
NC_000003.10:g.137463542dup	NCBI36
NG_008939.1:g.16686dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251654.9:c.488dup MANE Select	ENSP00000251654.4:p.Ala164SerfsTer?
ENST00000251654.8:c.488dup	ENSP00000251654.4:p.Ala164SerfsTer?
ENST00000459873.1:c.239dup	ENSP00000419293.1:p.Ala81SerfsTer?
ENST00000462542.5:c.355dup
ENST00000462637.5:c.419dup	ENSP00000420391.1:p.Ala141SerfsTer?
ENST00000465176.5:n.450dup
ENST00000466072.5:c.488dup	ENSP00000420158.1:p.Ala164SerfsTer?
ENST00000468777.5:c.581dup	ENSP00000419129.1:p.Ala195SerfsTer?
ENST00000469217.5:c.548dup	ENSP00000419027.1:p.Ala184SerfsTer?
ENST00000471595.5:c.488dup	ENSP00000417549.1:p.Ala164SerfsTer?
ENST00000473073.1:n.445dup
ENST00000474833.5:n.168+11452dup
ENST00000475214.5:n.402dup
ENST00000478469.5:c.488dup	ENSP00000420759.1:p.Ala164SerfsTer?
ENST00000482086.5:c.140dup	ENSP00000417253.1:p.Ala48SerfsTer?
ENST00000483687.5:c.431dup	ENSP00000420639.1:p.Ala145SerfsTer?
ENST00000484181.5:c.488dup	ENSP00000417937.1:p.Ala164SerfsTer?
ENST00000490504.5:c.372+5387dup	ENSP00000418307.1:n.372+5387dup
ENST00000494742.5:c.239dup	ENSP00000418020.1:p.Ala81SerfsTer?
NM_000532.4:c.488dup	NP_000523.2:p.Ala164SerfsTer?
NM_001178014.1:c.548dup	NP_001171485.1:p.Ala184SerfsTer?
XM_011512873.1:c.488dup	XP_011511175.1:p.Ala164SerfsTer?
XM_011512873.2:c.488dup	XP_011511175.1:p.Ala164SerfsTer?
NM_000532.5:c.488dup MANE Select	NP_000523.2:p.Ala164SerfsTer?
NM_001178014.2:c.548dup	NP_001171485.1:p.Ala184SerfsTer?