Canonical Allele Identifier: CA1404287970
Gene: PCCB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.136262087_136262089delinsAAT , CM000665.2:g.136262087_136262089delinsAAT GRCh38
NC_000003.11:g.135980929_135980931delinsAAT , CM000665.1:g.135980929_135980931delinsAAT GRCh37
NC_000003.10:g.137463619_137463621delinsAAT NCBI36
NG_008939.1:g.16763_16765delinsAAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000251654.9:c.543+22_543+24delinsAAT MANE Select ENSP00000251654.4:n.543+22_543+24delinsAAT
ENST00000251654.8:c.543+22_543+24delinsAAT ENSP00000251654.4:n.543+22_543+24delinsAAT
ENST00000459873.1:c.294+22_294+24delinsAAT ENSP00000419293.1:n.294+22_294+24delinsAAT
ENST00000462542.5:c.410+22_410+24delinsAAT
ENST00000462637.5:c.474+22_474+24delinsAAT ENSP00000420391.1:n.474+22_474+24delinsAAT
ENST00000465176.5:n.505+22_505+24delinsAAT
ENST00000466072.5:c.543+22_543+24delinsAAT ENSP00000420158.1:n.543+22_543+24delinsAAT
ENST00000468777.5:c.636+22_636+24delinsAAT ENSP00000419129.1:n.636+22_636+24delinsAAT
ENST00000469217.5:c.603+22_603+24delinsAAT ENSP00000419027.1:n.603+22_603+24delinsAAT
ENST00000471595.5:c.543+22_543+24delinsAAT ENSP00000417549.1:n.543+22_543+24delinsAAT
ENST00000473073.1:n.500+22_500+24delinsAAT
ENST00000474833.5:n.168+11529_168+11531delinsAAT
ENST00000475214.5:n.457+22_457+24delinsAAT
ENST00000478469.5:c.543+22_543+24delinsAAT ENSP00000420759.1:n.543+22_543+24delinsAAT
ENST00000482086.5:c.195+22_195+24delinsAAT ENSP00000417253.1:n.195+22_195+24delinsAAT
ENST00000483687.5:c.486+22_486+24delinsAAT ENSP00000420639.1:n.486+22_486+24delinsAAT
ENST00000484181.5:c.543+22_543+24delinsAAT ENSP00000417937.1:n.543+22_543+24delinsAAT
ENST00000490504.5:c.372+5464_372+5466delinsAAT ENSP00000418307.1:n.372+5464_372+5466delinsAAT
NM_000532.4:c.543+22_543+24delinsAAT NP_000523.2:n.543+22_543+24delinsAAT
NM_001178014.1:c.603+22_603+24delinsAAT NP_001171485.1:n.603+22_603+24delinsAAT
XM_011512873.1:c.543+22_543+24delinsAAT XP_011511175.1:n.543+22_543+24delinsAAT
XM_011512873.2:c.543+22_543+24delinsAAT XP_011511175.1:n.543+22_543+24delinsAAT
NM_000532.5:c.543+22_543+24delinsAAT MANE Select NP_000523.2:n.543+22_543+24delinsAAT
NM_001178014.2:c.603+22_603+24delinsAAT NP_001171485.1:n.603+22_603+24delinsAAT