Canonical Allele Identifier: CA2586972962

Gene: PCCB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136327160del , CM000665.2:g.136327160del	GRCh38
NC_000003.11:g.136046002del , CM000665.1:g.136046002del	GRCh37
NC_000003.10:g.137528692del	NCBI36
NG_008939.1:g.81836del

Transcript Alleles

HGVS	Amino-acid change
ENST00000251654.9:c.1204del MANE Select	ENSP00000251654.4:p.Ala402HisfsTer?
ENST00000251654.8:c.1204del	ENSP00000251654.4:p.Ala402HisfsTer?
ENST00000462637.5:c.1135del	ENSP00000420391.1:p.Ala379HisfsTer?
ENST00000466072.5:c.1264del	ENSP00000420158.1:p.Ala422HisfsTer?
ENST00000468777.5:c.1297del	ENSP00000419129.1:p.Ala433HisfsTer?
ENST00000469217.5:c.1264del	ENSP00000419027.1:p.Ala422HisfsTer?
ENST00000471595.5:c.1204del	ENSP00000417549.1:p.Ala402HisfsTer?
ENST00000473073.1:n.1405del
ENST00000474833.5:n.823+250del
ENST00000478469.5:c.885-7120del	ENSP00000420759.1:n.885-7120del
ENST00000482086.5:c.856del	ENSP00000417253.1:p.Ala286HisfsTer?
ENST00000483687.5:c.1147del	ENSP00000420639.1:p.Ala383HisfsTer?
ENST00000484181.5:c.1198+250del	ENSP00000417937.1:n.1198+250del
ENST00000490504.5:c.1033del	ENSP00000418307.1:p.Ala345HisfsTer?
NM_000532.4:c.1204del	NP_000523.2:p.Ala402HisfsTer?
NM_001178014.1:c.1264del	NP_001171485.1:p.Ala422HisfsTer?
NM_000532.5:c.1204del MANE Select	NP_000523.2:p.Ala402HisfsTer?
NM_001178014.2:c.1264del	NP_001171485.1:p.Ala422HisfsTer?