Canonical Allele Identifier: CA2667839511

Gene: PCCB

Linked Data

• gnomAD v4: 3-136261971-CGGTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136261974_136261977del , CM000665.2:g.136261974_136261977del	GRCh38
NC_000003.11:g.135980816_135980819del , CM000665.1:g.135980816_135980819del	GRCh37
NC_000003.10:g.137463506_137463509del	NCBI36
NG_008939.1:g.16650_16653del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251654.9:c.452_455del MANE Select	ENSP00000251654.4:p.Val151GlyfsTer4
ENST00000251654.8:c.452_455del	ENSP00000251654.4:p.Val151GlyfsTer4
ENST00000459873.1:c.203_206del	ENSP00000419293.1:p.Val68GlyfsTer4
ENST00000462542.5:c.319_322del
ENST00000462637.5:c.383_386del	ENSP00000420391.1:p.Val128GlyfsTer4
ENST00000465176.5:n.414_417del
ENST00000465423.5:c.539_542del	ENSP00000419263.1:p.Val180GlyfsTer4
ENST00000466072.5:c.452_455del	ENSP00000420158.1:p.Val151GlyfsTer4
ENST00000468777.5:c.545_548del	ENSP00000419129.1:p.Val182GlyfsTer4
ENST00000469217.5:c.512_515del	ENSP00000419027.1:p.Val171GlyfsTer4
ENST00000471595.5:c.452_455del	ENSP00000417549.1:p.Val151GlyfsTer4
ENST00000473073.1:n.409_412del
ENST00000474833.5:n.168+11416_168+11419del
ENST00000475214.5:n.366_369del
ENST00000478469.5:c.452_455del	ENSP00000420759.1:p.Val151GlyfsTer4
ENST00000482086.5:c.104_107del	ENSP00000417253.1:p.Val35GlyfsTer4
ENST00000483687.5:c.395_398del	ENSP00000420639.1:p.Val132GlyfsTer4
ENST00000484181.5:c.452_455del	ENSP00000417937.1:p.Val151GlyfsTer4
ENST00000490504.5:c.372+5351_372+5354del	ENSP00000418307.1:n.372+5351_372+5354del
ENST00000494742.5:c.203_206del	ENSP00000418020.1:p.Val68GlyfsTer4
NM_000532.4:c.452_455del	NP_000523.2:p.Val151GlyfsTer4
NM_001178014.1:c.512_515del	NP_001171485.1:p.Val171GlyfsTer4
XM_011512873.1:c.452_455del	XP_011511175.1:p.Val151GlyfsTer4
XM_011512873.2:c.452_455del	XP_011511175.1:p.Val151GlyfsTer4
NM_000532.5:c.452_455del MANE Select	NP_000523.2:p.Val151GlyfsTer4
NM_001178014.2:c.512_515del	NP_001171485.1:p.Val171GlyfsTer4