Canonical Allele Identifier: CA2667839576
Gene: PCCB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.136262173_136262178del , CM000665.2:g.136262173_136262178del GRCh38
NC_000003.11:g.135981015_135981020del , CM000665.1:g.135981015_135981020del GRCh37
NC_000003.10:g.137463705_137463710del NCBI36
NG_008939.1:g.16849_16854del

Transcript Alleles

HGVS Amino-acid Change
ENST00000251654.9:c.543+108_543+113del MANE Select ENSP00000251654.4:n.543+108_543+113del
ENST00000251654.8:c.543+108_543+113del ENSP00000251654.4:n.543+108_543+113del
ENST00000459873.1:c.294+108_294+113del ENSP00000419293.1:n.294+108_294+113del
ENST00000462542.5:c.410+108_410+113del
ENST00000462637.5:c.474+108_474+113del ENSP00000420391.1:n.474+108_474+113del
ENST00000465176.5:n.505+108_505+113del
ENST00000466072.5:c.543+108_543+113del ENSP00000420158.1:n.543+108_543+113del
ENST00000468777.5:c.636+108_636+113del ENSP00000419129.1:n.636+108_636+113del
ENST00000469217.5:c.603+108_603+113del ENSP00000419027.1:n.603+108_603+113del
ENST00000471595.5:c.543+108_543+113del ENSP00000417549.1:n.543+108_543+113del
ENST00000473073.1:n.500+108_500+113del
ENST00000474833.5:n.168+11615_168+11620del
ENST00000475214.5:n.457+108_457+113del
ENST00000478469.5:c.543+108_543+113del ENSP00000420759.1:n.543+108_543+113del
ENST00000482086.5:c.195+108_195+113del ENSP00000417253.1:n.195+108_195+113del
ENST00000483687.5:c.486+108_486+113del ENSP00000420639.1:n.486+108_486+113del
ENST00000484181.5:c.543+108_543+113del ENSP00000417937.1:n.543+108_543+113del
ENST00000490504.5:c.372+5550_372+5555del ENSP00000418307.1:n.372+5550_372+5555del
NM_000532.4:c.543+108_543+113del NP_000523.2:n.543+108_543+113del
NM_001178014.1:c.603+108_603+113del NP_001171485.1:n.603+108_603+113del
XM_011512873.1:c.543+108_543+113del XP_011511175.1:n.543+108_543+113del
XM_011512873.2:c.543+108_543+113del XP_011511175.1:n.543+108_543+113del
NM_000532.5:c.543+108_543+113del MANE Select NP_000523.2:n.543+108_543+113del
NM_001178014.2:c.603+108_603+113del NP_001171485.1:n.603+108_603+113del