Canonical Allele Identifier: CA1053911302

Gene: PCCB

Linked Data

• dbSNP Id: rs1941833495
• gnomAD v3: 3-136261799-C-CA
• gnomAD v4: 3-136261799-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136261799_136261800insA , CM000665.2:g.136261799_136261800insA	GRCh38
NC_000003.11:g.135980641_135980642insA , CM000665.1:g.135980641_135980642insA	GRCh37
NC_000003.10:g.137463331_137463332insA	NCBI36
NG_008939.1:g.16475_16476insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251654.9:c.430-153_430-152insA MANE Select	ENSP00000251654.4:n.430-153_430-152insA
ENST00000251654.8:c.430-153_430-152insA	ENSP00000251654.4:n.430-153_430-152insA
ENST00000459873.1:c.181-153_181-152insA	ENSP00000419293.1:n.181-153_181-152insA
ENST00000462542.5:c.297-153_297-152insA
ENST00000462637.5:c.361-153_361-152insA	ENSP00000420391.1:n.361-153_361-152insA
ENST00000465176.5:n.392-153_392-152insA
ENST00000465423.5:c.517-153_517-152insA	ENSP00000419263.1:n.517-153_517-152insA
ENST00000466072.5:c.430-153_430-152insA	ENSP00000420158.1:n.430-153_430-152insA
ENST00000468777.5:c.523-153_523-152insA	ENSP00000419129.1:n.523-153_523-152insA
ENST00000469217.5:c.490-153_490-152insA	ENSP00000419027.1:n.490-153_490-152insA
ENST00000471595.5:c.430-153_430-152insA	ENSP00000417549.1:n.430-153_430-152insA
ENST00000473073.1:n.387-153_387-152insA
ENST00000474833.5:n.168+11241_168+11242insA
ENST00000475214.5:n.344-153_344-152insA
ENST00000478469.5:c.430-153_430-152insA	ENSP00000420759.1:n.430-153_430-152insA
ENST00000482086.5:c.94-165_94-164insA	ENSP00000417253.1:n.94-165_94-164insA
ENST00000483687.5:c.373-153_373-152insA	ENSP00000420639.1:n.373-153_373-152insA
ENST00000484181.5:c.430-153_430-152insA	ENSP00000417937.1:n.430-153_430-152insA
ENST00000490504.5:c.372+5176_372+5177insA	ENSP00000418307.1:n.372+5176_372+5177insA
ENST00000494742.5:c.181-153_181-152insA	ENSP00000418020.1:n.181-153_181-152insA
NM_000532.4:c.430-153_430-152insA	NP_000523.2:n.430-153_430-152insA
NM_001178014.1:c.490-153_490-152insA	NP_001171485.1:n.490-153_490-152insA
XM_011512873.1:c.430-153_430-152insA	XP_011511175.1:n.430-153_430-152insA
XM_011512873.2:c.430-153_430-152insA	XP_011511175.1:n.430-153_430-152insA
NM_000532.5:c.430-153_430-152insA MANE Select	NP_000523.2:n.430-153_430-152insA
NM_001178014.2:c.490-153_490-152insA	NP_001171485.1:n.490-153_490-152insA