Canonical Allele Identifier: CA2667839512

Gene: PCCB

Linked Data

• gnomAD v4: 3-136261990-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136261993del , CM000665.2:g.136261993del	GRCh38
NC_000003.11:g.135980835del , CM000665.1:g.135980835del	GRCh37
NC_000003.10:g.137463525del	NCBI36
NG_008939.1:g.16669del

Transcript Alleles

HGVS	Amino-acid change
ENST00000251654.9:c.471del MANE Select	ENSP00000251654.4:p.Leu158Ter
ENST00000251654.8:c.471del	ENSP00000251654.4:p.Leu158Ter
ENST00000459873.1:c.222del	ENSP00000419293.1:p.Leu75Ter
ENST00000462542.5:c.338del
ENST00000462637.5:c.402del	ENSP00000420391.1:p.Leu135Ter
ENST00000465176.5:n.433del
ENST00000465423.5:c.558del	ENSP00000419263.1:p.Leu187Ter
ENST00000466072.5:c.471del	ENSP00000420158.1:p.Leu158Ter
ENST00000468777.5:c.564del	ENSP00000419129.1:p.Leu189Ter
ENST00000469217.5:c.531del	ENSP00000419027.1:p.Leu178Ter
ENST00000471595.5:c.471del	ENSP00000417549.1:p.Leu158Ter
ENST00000473073.1:n.428del
ENST00000474833.5:n.168+11435del
ENST00000475214.5:n.385del
ENST00000478469.5:c.471del	ENSP00000420759.1:p.Leu158Ter
ENST00000482086.5:c.123del	ENSP00000417253.1:p.Leu42Ter
ENST00000483687.5:c.414del	ENSP00000420639.1:p.Leu139Ter
ENST00000484181.5:c.471del	ENSP00000417937.1:p.Leu158Ter
ENST00000490504.5:c.372+5370del	ENSP00000418307.1:n.372+5370del
ENST00000494742.5:c.222del	ENSP00000418020.1:p.Leu75Ter
NM_000532.4:c.471del	NP_000523.2:p.Leu158Ter
NM_001178014.1:c.531del	NP_001171485.1:p.Leu178Ter
XM_011512873.1:c.471del	XP_011511175.1:p.Leu158Ter
XM_011512873.2:c.471del	XP_011511175.1:p.Leu158Ter
NM_000532.5:c.471del MANE Select	NP_000523.2:p.Leu158Ter
NM_001178014.2:c.531del	NP_001171485.1:p.Leu178Ter