Canonical Allele Identifier: CA2667839510

Gene: PCCB

Linked Data

• gnomAD v4: 3-136261956-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136261958del , CM000665.2:g.136261958del	GRCh38
NC_000003.11:g.135980800del , CM000665.1:g.135980800del	GRCh37
NC_000003.10:g.137463490del	NCBI36
NG_008939.1:g.16634del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251654.9:c.436del MANE Select	ENSP00000251654.4:p.Asp146ThrfsTer4
ENST00000251654.8:c.436del	ENSP00000251654.4:p.Asp146ThrfsTer4
ENST00000459873.1:c.187del	ENSP00000419293.1:p.Asp63ThrfsTer4
ENST00000462542.5:c.303del
ENST00000462637.5:c.367del	ENSP00000420391.1:p.Asp123ThrfsTer4
ENST00000465176.5:n.398del
ENST00000465423.5:c.523del	ENSP00000419263.1:p.Asp175ThrfsTer4
ENST00000466072.5:c.436del	ENSP00000420158.1:p.Asp146ThrfsTer4
ENST00000468777.5:c.529del	ENSP00000419129.1:p.Asp177ThrfsTer4
ENST00000469217.5:c.496del	ENSP00000419027.1:p.Asp166ThrfsTer4
ENST00000471595.5:c.436del	ENSP00000417549.1:p.Asp146ThrfsTer4
ENST00000473073.1:n.393del
ENST00000474833.5:n.168+11400del
ENST00000475214.5:n.350del
ENST00000478469.5:c.436del	ENSP00000420759.1:p.Asp146ThrfsTer4
ENST00000482086.5:c.94-6del	ENSP00000417253.1:n.94-6del
ENST00000483687.5:c.379del	ENSP00000420639.1:p.Asp127ThrfsTer4
ENST00000484181.5:c.436del	ENSP00000417937.1:p.Asp146ThrfsTer4
ENST00000490504.5:c.372+5335del	ENSP00000418307.1:n.372+5335del
ENST00000494742.5:c.187del	ENSP00000418020.1:p.Asp63ThrfsTer4
NM_000532.4:c.436del	NP_000523.2:p.Asp146ThrfsTer4
NM_001178014.1:c.496del	NP_001171485.1:p.Asp166ThrfsTer4
XM_011512873.1:c.436del	XP_011511175.1:p.Asp146ThrfsTer4
XM_011512873.2:c.436del	XP_011511175.1:p.Asp146ThrfsTer4
NM_000532.5:c.436del MANE Select	NP_000523.2:p.Asp146ThrfsTer4
NM_001178014.2:c.496del	NP_001171485.1:p.Asp166ThrfsTer4