Canonical Allele Identifier: CA2667839451

Gene: PCCB

Linked Data

• gnomAD v4: 3-136261857-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136261859_136261860del , CM000665.2:g.136261859_136261860del	GRCh38
NC_000003.11:g.135980701_135980702del , CM000665.1:g.135980701_135980702del	GRCh37
NC_000003.10:g.137463391_137463392del	NCBI36
NG_008939.1:g.16535_16536del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251654.9:c.430-93_430-92del MANE Select	ENSP00000251654.4:n.430-93_430-92del
ENST00000251654.8:c.430-93_430-92del	ENSP00000251654.4:n.430-93_430-92del
ENST00000459873.1:c.181-93_181-92del	ENSP00000419293.1:n.181-93_181-92del
ENST00000462542.5:c.297-93_297-92del
ENST00000462637.5:c.361-93_361-92del	ENSP00000420391.1:n.361-93_361-92del
ENST00000465176.5:n.392-93_392-92del
ENST00000465423.5:c.517-93_517-92del	ENSP00000419263.1:n.517-93_517-92del
ENST00000466072.5:c.430-93_430-92del	ENSP00000420158.1:n.430-93_430-92del
ENST00000468777.5:c.523-93_523-92del	ENSP00000419129.1:n.523-93_523-92del
ENST00000469217.5:c.490-93_490-92del	ENSP00000419027.1:n.490-93_490-92del
ENST00000471595.5:c.430-93_430-92del	ENSP00000417549.1:n.430-93_430-92del
ENST00000473073.1:n.387-93_387-92del
ENST00000474833.5:n.168+11301_168+11302del
ENST00000475214.5:n.344-93_344-92del
ENST00000478469.5:c.430-93_430-92del	ENSP00000420759.1:n.430-93_430-92del
ENST00000482086.5:c.94-105_94-104del	ENSP00000417253.1:n.94-105_94-104del
ENST00000483687.5:c.373-93_373-92del	ENSP00000420639.1:n.373-93_373-92del
ENST00000484181.5:c.430-93_430-92del	ENSP00000417937.1:n.430-93_430-92del
ENST00000490504.5:c.372+5236_372+5237del	ENSP00000418307.1:n.372+5236_372+5237del
ENST00000494742.5:c.181-93_181-92del	ENSP00000418020.1:n.181-93_181-92del
NM_000532.4:c.430-93_430-92del	NP_000523.2:n.430-93_430-92del
NM_001178014.1:c.490-93_490-92del	NP_001171485.1:n.490-93_490-92del
XM_011512873.1:c.430-93_430-92del	XP_011511175.1:n.430-93_430-92del
XM_011512873.2:c.430-93_430-92del	XP_011511175.1:n.430-93_430-92del
NM_000532.5:c.430-93_430-92del MANE Select	NP_000523.2:n.430-93_430-92del
NM_001178014.2:c.490-93_490-92del	NP_001171485.1:n.490-93_490-92del