Canonical Allele Identifier: CA1404287952

Gene: PCCB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136262037_136262039delinsCTT , CM000665.2:g.136262037_136262039delinsCTT	GRCh38
NC_000003.11:g.135980879_135980881delinsCTT , CM000665.1:g.135980879_135980881delinsCTT	GRCh37
NC_000003.10:g.137463569_137463571delinsCTT	NCBI36
NG_008939.1:g.16713_16715delinsCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251654.9:c.515_517delinsCTT MANE Select	ENSP00000251654.4:p.Ser172=
ENST00000251654.8:c.515_517delinsCTT	ENSP00000251654.4:p.Ser172=
ENST00000459873.1:c.266_268delinsCTT	ENSP00000419293.1:p.Ser89=
ENST00000462542.5:c.382_384delinsCTT
ENST00000462637.5:c.446_448delinsCTT	ENSP00000420391.1:p.Ser149=
ENST00000465176.5:n.477_479delinsCTT
ENST00000466072.5:c.515_517delinsCTT	ENSP00000420158.1:p.Ser172=
ENST00000468777.5:c.608_610delinsCTT	ENSP00000419129.1:p.Ser203=
ENST00000469217.5:c.575_577delinsCTT	ENSP00000419027.1:p.Ser192=
ENST00000471595.5:c.515_517delinsCTT	ENSP00000417549.1:p.Ser172=
ENST00000473073.1:n.472_474delinsCTT
ENST00000474833.5:n.168+11479_168+11481delinsCTT
ENST00000475214.5:n.429_431delinsCTT
ENST00000478469.5:c.515_517delinsCTT	ENSP00000420759.1:p.Ser172=
ENST00000482086.5:c.167_169delinsCTT	ENSP00000417253.1:p.Ser56=
ENST00000483687.5:c.458_460delinsCTT	ENSP00000420639.1:p.Ser153=
ENST00000484181.5:c.515_517delinsCTT	ENSP00000417937.1:p.Ser172=
ENST00000490504.5:c.372+5414_372+5416delinsCTT	ENSP00000418307.1:n.372+5414_372+5416delinsCTT
NM_000532.4:c.515_517delinsCTT	NP_000523.2:p.Ser172=
NM_001178014.1:c.575_577delinsCTT	NP_001171485.1:p.Ser192=
XM_011512873.1:c.515_517delinsCTT	XP_011511175.1:p.Ser172=
XM_011512873.2:c.515_517delinsCTT	XP_011511175.1:p.Ser172=
NM_000532.5:c.515_517delinsCTT MANE Select	NP_000523.2:p.Ser172=
NM_001178014.2:c.575_577delinsCTT	NP_001171485.1:p.Ser192=