Canonical Allele Identifier: CA2573052088

Gene: PCCB

Linked Data

• ClinVar Variation Id: 1324854
• ClinVar RCV Id: RCV001782574
• dbSNP Id: rs2108146780

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136262040_136262065del , CM000665.2:g.136262040_136262065del	GRCh38
NC_000003.11:g.135980882_135980907del , CM000665.1:g.135980882_135980907del	GRCh37
NC_000003.10:g.137463572_137463597del	NCBI36
NG_008939.1:g.16716_16741del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251654.9:c.518_543del MANE Select	ENSP00000251654.4:p.Leu173Ter
ENST00000251654.8:c.518_543del	ENSP00000251654.4:p.Leu173Ter
ENST00000459873.1:c.269_294del	ENSP00000419293.1:p.Leu90Ter
ENST00000462542.5:c.385_410del
ENST00000462637.5:c.449_474del	ENSP00000420391.1:p.Leu150Ter
ENST00000465176.5:n.480_505del
ENST00000466072.5:c.518_543del	ENSP00000420158.1:p.Leu173Ter
ENST00000468777.5:c.611_636del	ENSP00000419129.1:p.Leu204Ter
ENST00000469217.5:c.578_603del	ENSP00000419027.1:p.Leu193Ter
ENST00000471595.5:c.518_543del	ENSP00000417549.1:p.Leu173Ter
ENST00000473073.1:n.475_500del
ENST00000474833.5:n.168+11482_168+11507del
ENST00000475214.5:n.432_457del
ENST00000478469.5:c.518_543del	ENSP00000420759.1:p.Leu173Ter
ENST00000482086.5:c.170_195del	ENSP00000417253.1:p.Leu57Ter
ENST00000483687.5:c.461_486del	ENSP00000420639.1:p.Leu154Ter
ENST00000484181.5:c.518_543del	ENSP00000417937.1:p.Leu173Ter
ENST00000490504.5:c.372+5417_372+5442del	ENSP00000418307.1:n.372+5417_372+5442del
NM_000532.4:c.518_543del	NP_000523.2:p.Leu173Ter
NM_001178014.1:c.578_603del	NP_001171485.1:p.Leu193Ter
XM_011512873.1:c.518_543del	XP_011511175.1:p.Leu173Ter
XM_011512873.2:c.518_543del	XP_011511175.1:p.Leu173Ter
NM_000532.5:c.518_543del MANE Select	NP_000523.2:p.Leu173Ter
NM_001178014.2:c.578_603del	NP_001171485.1:p.Leu193Ter