Canonical Allele Identifier: CA917015284
Gene: PCCB HGNC NCBI

Linked Data

dbSNP Id: rs1559998957

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.136262348del , CM000665.2:g.136262348del GRCh38
NC_000003.11:g.135981190del , CM000665.1:g.135981190del GRCh37
NC_000003.10:g.137463880del NCBI36
NG_008939.1:g.17024del

Transcript Alleles

HGVS Amino-acid Change
ENST00000251654.9:c.543+283del MANE Select ENSP00000251654.4:n.543+283del
ENST00000251654.8:c.543+283del ENSP00000251654.4:n.543+283del
ENST00000459873.1:c.294+283del ENSP00000419293.1:n.294+283del
ENST00000462542.5:c.410+283del
ENST00000462637.5:c.474+283del ENSP00000420391.1:n.474+283del
ENST00000465176.5:n.505+283del
ENST00000466072.5:c.543+283del ENSP00000420158.1:n.543+283del
ENST00000468777.5:c.636+283del ENSP00000419129.1:n.636+283del
ENST00000469217.5:c.603+283del ENSP00000419027.1:n.603+283del
ENST00000471595.5:c.543+283del ENSP00000417549.1:n.543+283del
ENST00000473073.1:n.500+283del
ENST00000474833.5:n.168+11790del
ENST00000475214.5:n.457+283del
ENST00000478469.5:c.543+283del ENSP00000420759.1:n.543+283del
ENST00000482086.5:c.195+283del ENSP00000417253.1:n.195+283del
ENST00000483687.5:c.486+283del ENSP00000420639.1:n.486+283del
ENST00000484181.5:c.543+283del ENSP00000417937.1:n.543+283del
ENST00000490504.5:c.372+5725del ENSP00000418307.1:n.372+5725del
NM_000532.4:c.543+283del NP_000523.2:n.543+283del
NM_001178014.1:c.603+283del NP_001171485.1:n.603+283del
XM_011512873.1:c.543+283del XP_011511175.1:n.543+283del
XM_011512873.2:c.543+283del XP_011511175.1:n.543+283del
NM_000532.5:c.543+283del MANE Select NP_000523.2:n.543+283del
NM_001178014.2:c.603+283del NP_001171485.1:n.603+283del