Canonical Allele Identifier: CA1404288105
Gene: PCCB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.136262341_136262342delinsCT , CM000665.2:g.136262341_136262342delinsCT GRCh38
NC_000003.11:g.135981183_135981184delinsCT , CM000665.1:g.135981183_135981184delinsCT GRCh37
NC_000003.10:g.137463873_137463874delinsCT NCBI36
NG_008939.1:g.17017_17018delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000251654.9:c.543+276_543+277delinsCT MANE Select ENSP00000251654.4:n.543+276_543+277delinsCT
ENST00000251654.8:c.543+276_543+277delinsCT ENSP00000251654.4:n.543+276_543+277delinsCT
ENST00000459873.1:c.294+276_294+277delinsCT ENSP00000419293.1:n.294+276_294+277delinsCT
ENST00000462542.5:c.410+276_410+277delinsCT
ENST00000462637.5:c.474+276_474+277delinsCT ENSP00000420391.1:n.474+276_474+277delinsCT
ENST00000465176.5:n.505+276_505+277delinsCT
ENST00000466072.5:c.543+276_543+277delinsCT ENSP00000420158.1:n.543+276_543+277delinsCT
ENST00000468777.5:c.636+276_636+277delinsCT ENSP00000419129.1:n.636+276_636+277delinsCT
ENST00000469217.5:c.603+276_603+277delinsCT ENSP00000419027.1:n.603+276_603+277delinsCT
ENST00000471595.5:c.543+276_543+277delinsCT ENSP00000417549.1:n.543+276_543+277delinsCT
ENST00000473073.1:n.500+276_500+277delinsCT
ENST00000474833.5:n.168+11783_168+11784delinsCT
ENST00000475214.5:n.457+276_457+277delinsCT
ENST00000478469.5:c.543+276_543+277delinsCT ENSP00000420759.1:n.543+276_543+277delinsCT
ENST00000482086.5:c.195+276_195+277delinsCT ENSP00000417253.1:n.195+276_195+277delinsCT
ENST00000483687.5:c.486+276_486+277delinsCT ENSP00000420639.1:n.486+276_486+277delinsCT
ENST00000484181.5:c.543+276_543+277delinsCT ENSP00000417937.1:n.543+276_543+277delinsCT
ENST00000490504.5:c.372+5718_372+5719delinsCT ENSP00000418307.1:n.372+5718_372+5719delinsCT
NM_000532.4:c.543+276_543+277delinsCT NP_000523.2:n.543+276_543+277delinsCT
NM_001178014.1:c.603+276_603+277delinsCT NP_001171485.1:n.603+276_603+277delinsCT
XM_011512873.1:c.543+276_543+277delinsCT XP_011511175.1:n.543+276_543+277delinsCT
XM_011512873.2:c.543+276_543+277delinsCT XP_011511175.1:n.543+276_543+277delinsCT
NM_000532.5:c.543+276_543+277delinsCT MANE Select NP_000523.2:n.543+276_543+277delinsCT
NM_001178014.2:c.603+276_603+277delinsCT NP_001171485.1:n.603+276_603+277delinsCT