Canonical Allele Identifier: CA84267027
Gene: PCCB HGNC NCBI

Linked Data

dbSNP Id: rs35633718

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.136262361_136262362insC , CM000665.2:g.136262361_136262362insC GRCh38
NC_000003.11:g.135981203_135981204insC , CM000665.1:g.135981203_135981204insC GRCh37
NC_000003.10:g.137463893_137463894insC NCBI36
NG_008939.1:g.17037_17038insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000251654.9:c.543+296_543+297insC MANE Select ENSP00000251654.4:n.543+296_543+297insC
ENST00000251654.8:c.543+296_543+297insC ENSP00000251654.4:n.543+296_543+297insC
ENST00000459873.1:c.294+296_294+297insC ENSP00000419293.1:n.294+296_294+297insC
ENST00000462542.5:c.410+296_410+297insC
ENST00000462637.5:c.474+296_474+297insC ENSP00000420391.1:n.474+296_474+297insC
ENST00000465176.5:n.505+296_505+297insC
ENST00000466072.5:c.543+296_543+297insC ENSP00000420158.1:n.543+296_543+297insC
ENST00000468777.5:c.636+296_636+297insC ENSP00000419129.1:n.636+296_636+297insC
ENST00000469217.5:c.603+296_603+297insC ENSP00000419027.1:n.603+296_603+297insC
ENST00000471595.5:c.543+296_543+297insC ENSP00000417549.1:n.543+296_543+297insC
ENST00000473073.1:n.500+296_500+297insC
ENST00000474833.5:n.168+11803_168+11804insC
ENST00000475214.5:n.457+296_457+297insC
ENST00000478469.5:c.543+296_543+297insC ENSP00000420759.1:n.543+296_543+297insC
ENST00000482086.5:c.195+296_195+297insC ENSP00000417253.1:n.195+296_195+297insC
ENST00000483687.5:c.486+296_486+297insC ENSP00000420639.1:n.486+296_486+297insC
ENST00000484181.5:c.543+296_543+297insC ENSP00000417937.1:n.543+296_543+297insC
ENST00000490504.5:c.372+5738_372+5739insC ENSP00000418307.1:n.372+5738_372+5739insC
NM_000532.4:c.543+296_543+297insC NP_000523.2:n.543+296_543+297insC
NM_001178014.1:c.603+296_603+297insC NP_001171485.1:n.603+296_603+297insC
XM_011512873.1:c.543+296_543+297insC XP_011511175.1:n.543+296_543+297insC
XM_011512873.2:c.543+296_543+297insC XP_011511175.1:n.543+296_543+297insC
NM_000532.5:c.543+296_543+297insC MANE Select NP_000523.2:n.543+296_543+297insC
NM_001178014.2:c.603+296_603+297insC NP_001171485.1:n.603+296_603+297insC