Canonical Allele Identifier: CA435957429

Gene: PCCB

Linked Data

• gnomAD v4: 3-136261974-TG-T
• COSMIC: COSM1419363
• MyVariant Identifiers: chr3:g.135980817del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136261979del , CM000665.2:g.136261979del	GRCh38
NC_000003.11:g.135980821del , CM000665.1:g.135980821del	GRCh37
NC_000003.10:g.137463511del	NCBI36
NG_008939.1:g.16655del

Transcript Alleles

HGVS	Amino-acid change
ENST00000251654.9:c.457del MANE Select	ENSP00000251654.4:p.Ala153LeufsTer3
ENST00000251654.8:c.457del	ENSP00000251654.4:p.Ala153LeufsTer3
ENST00000459873.1:c.208del	ENSP00000419293.1:p.Ala70LeufsTer3
ENST00000462542.5:c.324del
ENST00000462637.5:c.388del	ENSP00000420391.1:p.Ala130LeufsTer3
ENST00000465176.5:n.419del
ENST00000465423.5:c.544del	ENSP00000419263.1:p.Ala182LeufsTer3
ENST00000466072.5:c.457del	ENSP00000420158.1:p.Ala153LeufsTer3
ENST00000468777.5:c.550del	ENSP00000419129.1:p.Ala184LeufsTer3
ENST00000469217.5:c.517del	ENSP00000419027.1:p.Ala173LeufsTer3
ENST00000471595.5:c.457del	ENSP00000417549.1:p.Ala153LeufsTer3
ENST00000473073.1:n.414del
ENST00000474833.5:n.168+11421del
ENST00000475214.5:n.371del
ENST00000478469.5:c.457del	ENSP00000420759.1:p.Ala153LeufsTer3
ENST00000482086.5:c.109del	ENSP00000417253.1:p.Ala37LeufsTer3
ENST00000483687.5:c.400del	ENSP00000420639.1:p.Ala134LeufsTer3
ENST00000484181.5:c.457del	ENSP00000417937.1:p.Ala153LeufsTer3
ENST00000490504.5:c.372+5356del	ENSP00000418307.1:n.372+5356del
ENST00000494742.5:c.208del	ENSP00000418020.1:p.Ala70LeufsTer3
NM_000532.4:c.457del	NP_000523.2:p.Ala153LeufsTer3
NM_001178014.1:c.517del	NP_001171485.1:p.Ala173LeufsTer3
XM_011512873.1:c.457del	XP_011511175.1:p.Ala153LeufsTer3
XM_011512873.2:c.457del	XP_011511175.1:p.Ala153LeufsTer3
NM_000532.5:c.457del MANE Select	NP_000523.2:p.Ala153LeufsTer3
NM_001178014.2:c.517del	NP_001171485.1:p.Ala173LeufsTer3