Canonical Allele Identifier: CA84266978

Gene: PCCB

Linked Data

• dbSNP Id: rs1029795547
• gnomAD v3: 3-136261878-CTG-C
• gnomAD v4: 3-136261878-CTG-C
• MyVariant Identifiers: chr3:g.135980721_135980722del (hg19) ; chr3:g.136261879_136261880del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136261881_136261882del , CM000665.2:g.136261881_136261882del	GRCh38
NC_000003.11:g.135980723_135980724del , CM000665.1:g.135980723_135980724del	GRCh37
NC_000003.10:g.137463413_137463414del	NCBI36
NG_008939.1:g.16557_16558del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251654.9:c.430-71_430-70del MANE Select	ENSP00000251654.4:n.430-71_430-70del
ENST00000251654.8:c.430-71_430-70del	ENSP00000251654.4:n.430-71_430-70del
ENST00000459873.1:c.181-71_181-70del	ENSP00000419293.1:n.181-71_181-70del
ENST00000462542.5:c.297-71_297-70del
ENST00000462637.5:c.361-71_361-70del	ENSP00000420391.1:n.361-71_361-70del
ENST00000465176.5:n.392-71_392-70del
ENST00000465423.5:c.517-71_517-70del	ENSP00000419263.1:n.517-71_517-70del
ENST00000466072.5:c.430-71_430-70del	ENSP00000420158.1:n.430-71_430-70del
ENST00000468777.5:c.523-71_523-70del	ENSP00000419129.1:n.523-71_523-70del
ENST00000469217.5:c.490-71_490-70del	ENSP00000419027.1:n.490-71_490-70del
ENST00000471595.5:c.430-71_430-70del	ENSP00000417549.1:n.430-71_430-70del
ENST00000473073.1:n.387-71_387-70del
ENST00000474833.5:n.168+11323_168+11324del
ENST00000475214.5:n.344-71_344-70del
ENST00000478469.5:c.430-71_430-70del	ENSP00000420759.1:n.430-71_430-70del
ENST00000482086.5:c.94-83_94-82del	ENSP00000417253.1:n.94-83_94-82del
ENST00000483687.5:c.373-71_373-70del	ENSP00000420639.1:n.373-71_373-70del
ENST00000484181.5:c.430-71_430-70del	ENSP00000417937.1:n.430-71_430-70del
ENST00000490504.5:c.372+5258_372+5259del	ENSP00000418307.1:n.372+5258_372+5259del
ENST00000494742.5:c.181-71_181-70del	ENSP00000418020.1:n.181-71_181-70del
NM_000532.4:c.430-71_430-70del	NP_000523.2:n.430-71_430-70del
NM_001178014.1:c.490-71_490-70del	NP_001171485.1:n.490-71_490-70del
XM_011512873.1:c.430-71_430-70del	XP_011511175.1:n.430-71_430-70del
XM_011512873.2:c.430-71_430-70del	XP_011511175.1:n.430-71_430-70del
NM_000532.5:c.430-71_430-70del MANE Select	NP_000523.2:n.430-71_430-70del
NM_001178014.2:c.490-71_490-70del	NP_001171485.1:n.490-71_490-70del