Canonical Allele Identifier: CA2580068819

Gene: PCCB

Linked Data

• ClinVar Variation Id: 1958670
• ClinVar RCV Id: RCV002725580

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136261968dup , CM000665.2:g.136261968dup	GRCh38
NC_000003.11:g.135980810dup , CM000665.1:g.135980810dup	GRCh37
NC_000003.10:g.137463500dup	NCBI36
NG_008939.1:g.16644dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251654.9:c.446dup MANE Select	ENSP00000251654.4:p.Thr150AsnfsTer11
ENST00000251654.8:c.446dup	ENSP00000251654.4:p.Thr150AsnfsTer11
ENST00000459873.1:c.197dup	ENSP00000419293.1:p.Thr67AsnfsTer11
ENST00000462542.5:c.313dup
ENST00000462637.5:c.377dup	ENSP00000420391.1:p.Thr127AsnfsTer11
ENST00000465176.5:n.408dup
ENST00000465423.5:c.533dup	ENSP00000419263.1:p.Thr179AsnfsTer11
ENST00000466072.5:c.446dup	ENSP00000420158.1:p.Thr150AsnfsTer11
ENST00000468777.5:c.539dup	ENSP00000419129.1:p.Thr181AsnfsTer11
ENST00000469217.5:c.506dup	ENSP00000419027.1:p.Thr170AsnfsTer11
ENST00000471595.5:c.446dup	ENSP00000417549.1:p.Thr150AsnfsTer11
ENST00000473073.1:n.403dup
ENST00000474833.5:n.168+11410dup
ENST00000475214.5:n.360dup
ENST00000478469.5:c.446dup	ENSP00000420759.1:p.Thr150AsnfsTer11
ENST00000482086.5:c.98dup	ENSP00000417253.1:p.Thr34AsnfsTer11
ENST00000483687.5:c.389dup	ENSP00000420639.1:p.Thr131AsnfsTer11
ENST00000484181.5:c.446dup	ENSP00000417937.1:p.Thr150AsnfsTer11
ENST00000490504.5:c.372+5345dup	ENSP00000418307.1:n.372+5345dup
ENST00000494742.5:c.197dup	ENSP00000418020.1:p.Thr67AsnfsTer11
NM_000532.4:c.446dup	NP_000523.2:p.Thr150AsnfsTer11
NM_001178014.1:c.506dup	NP_001171485.1:p.Thr170AsnfsTer11
XM_011512873.1:c.446dup	XP_011511175.1:p.Thr150AsnfsTer11
XM_011512873.2:c.446dup	XP_011511175.1:p.Thr150AsnfsTer11
NM_000532.5:c.446dup MANE Select	NP_000523.2:p.Thr150AsnfsTer11
NM_001178014.2:c.506dup	NP_001171485.1:p.Thr170AsnfsTer11