Canonical Allele Identifier: CA2667839600

Gene: PCCB

Linked Data

• gnomAD v4: 3-136262202-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136262207del , CM000665.2:g.136262207del	GRCh38
NC_000003.11:g.135981049del , CM000665.1:g.135981049del	GRCh37
NC_000003.10:g.137463739del	NCBI36
NG_008939.1:g.16883del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251654.9:c.543+142del MANE Select	ENSP00000251654.4:n.543+142del
ENST00000251654.8:c.543+142del	ENSP00000251654.4:n.543+142del
ENST00000459873.1:c.294+142del	ENSP00000419293.1:n.294+142del
ENST00000462542.5:c.410+142del
ENST00000462637.5:c.474+142del	ENSP00000420391.1:n.474+142del
ENST00000465176.5:n.505+142del
ENST00000466072.5:c.543+142del	ENSP00000420158.1:n.543+142del
ENST00000468777.5:c.636+142del	ENSP00000419129.1:n.636+142del
ENST00000469217.5:c.603+142del	ENSP00000419027.1:n.603+142del
ENST00000471595.5:c.543+142del	ENSP00000417549.1:n.543+142del
ENST00000473073.1:n.500+142del
ENST00000474833.5:n.168+11649del
ENST00000475214.5:n.457+142del
ENST00000478469.5:c.543+142del	ENSP00000420759.1:n.543+142del
ENST00000482086.5:c.195+142del	ENSP00000417253.1:n.195+142del
ENST00000483687.5:c.486+142del	ENSP00000420639.1:n.486+142del
ENST00000484181.5:c.543+142del	ENSP00000417937.1:n.543+142del
ENST00000490504.5:c.372+5584del	ENSP00000418307.1:n.372+5584del
NM_000532.4:c.543+142del	NP_000523.2:n.543+142del
NM_001178014.1:c.603+142del	NP_001171485.1:n.603+142del
XM_011512873.1:c.543+142del	XP_011511175.1:n.543+142del
XM_011512873.2:c.543+142del	XP_011511175.1:n.543+142del
NM_000532.5:c.543+142del MANE Select	NP_000523.2:n.543+142del
NM_001178014.2:c.603+142del	NP_001171485.1:n.603+142del