Canonical Allele Identifier: CA1053911313

Gene: PCCB

Linked Data

• dbSNP Id: rs1941834033
• gnomAD v3: 3-136261814-GAGTGAAACC-G
• gnomAD v4: 3-136261814-GAGTGAAACC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136261819_136261827del , CM000665.2:g.136261819_136261827del	GRCh38
NC_000003.11:g.135980661_135980669del , CM000665.1:g.135980661_135980669del	GRCh37
NC_000003.10:g.137463351_137463359del	NCBI36
NG_008939.1:g.16495_16503del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251654.9:c.430-133_430-125del MANE Select	ENSP00000251654.4:n.430-133_430-125del
ENST00000251654.8:c.430-133_430-125del	ENSP00000251654.4:n.430-133_430-125del
ENST00000459873.1:c.181-133_181-125del	ENSP00000419293.1:n.181-133_181-125del
ENST00000462542.5:c.297-133_297-125del
ENST00000462637.5:c.361-133_361-125del	ENSP00000420391.1:n.361-133_361-125del
ENST00000465176.5:n.392-133_392-125del
ENST00000465423.5:c.517-133_517-125del	ENSP00000419263.1:n.517-133_517-125del
ENST00000466072.5:c.430-133_430-125del	ENSP00000420158.1:n.430-133_430-125del
ENST00000468777.5:c.523-133_523-125del	ENSP00000419129.1:n.523-133_523-125del
ENST00000469217.5:c.490-133_490-125del	ENSP00000419027.1:n.490-133_490-125del
ENST00000471595.5:c.430-133_430-125del	ENSP00000417549.1:n.430-133_430-125del
ENST00000473073.1:n.387-133_387-125del
ENST00000474833.5:n.168+11261_168+11269del
ENST00000475214.5:n.344-133_344-125del
ENST00000478469.5:c.430-133_430-125del	ENSP00000420759.1:n.430-133_430-125del
ENST00000482086.5:c.94-145_94-137del	ENSP00000417253.1:n.94-145_94-137del
ENST00000483687.5:c.373-133_373-125del	ENSP00000420639.1:n.373-133_373-125del
ENST00000484181.5:c.430-133_430-125del	ENSP00000417937.1:n.430-133_430-125del
ENST00000490504.5:c.372+5196_372+5204del	ENSP00000418307.1:n.372+5196_372+5204del
ENST00000494742.5:c.181-133_181-125del	ENSP00000418020.1:n.181-133_181-125del
NM_000532.4:c.430-133_430-125del	NP_000523.2:n.430-133_430-125del
NM_001178014.1:c.490-133_490-125del	NP_001171485.1:n.490-133_490-125del
XM_011512873.1:c.430-133_430-125del	XP_011511175.1:n.430-133_430-125del
XM_011512873.2:c.430-133_430-125del	XP_011511175.1:n.430-133_430-125del
NM_000532.5:c.430-133_430-125del MANE Select	NP_000523.2:n.430-133_430-125del
NM_001178014.2:c.490-133_490-125del	NP_001171485.1:n.490-133_490-125del