Canonical Allele Identifier: CA2604694182

Gene: PCCB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136329989_136329991del , CM000665.2:g.136329989_136329991del	GRCh38
NC_000003.11:g.136048831_136048833del , CM000665.1:g.136048831_136048833del	GRCh37
NC_000003.10:g.137531521_137531523del	NCBI36
NG_008939.1:g.84665_84667del

Transcript Alleles

HGVS	Amino-acid Change
NM_000532.5:c.1583_1585del MANE Select	NP_000523.2:p.Gln528del
ENST00000251654.9:c.1583_1585del MANE Select	ENSP00000251654.4:p.Gln528del
NM_000532.4:c.1583_1585del	NP_000523.2:p.Gln528del
NM_001178014.1:c.1643_1645del	NP_001171485.1:p.Gln548del
NM_001178014.2:c.1643_1645del	NP_001171485.1:p.Gln548del
ENST00000251654.8:c.1583_1585del	ENSP00000251654.4:p.Gln528del
ENST00000462637.5:c.1514_1516del	ENSP00000420391.1:p.Gln505del
ENST00000466072.5:c.1643_1645del	ENSP00000420158.1:p.Gln548del
ENST00000468777.5:c.1676_1678del	ENSP00000419129.1:p.Gln559del
ENST00000469217.5:c.1643_1645del	ENSP00000419027.1:p.Gln548del
ENST00000471595.5:c.1578+5_1578+7del	ENSP00000417549.1:n.1578+5_1578+7del
ENST00000473073.1:n.1784_1786del
ENST00000478469.5:c.885-4291_885-4289del	ENSP00000420759.1:n.885-4291_885-4289del
ENST00000482086.5:c.1235_1237del	ENSP00000417253.1:p.Gln412del
ENST00000483687.5:c.1526_1528del	ENSP00000420639.1:p.Gln509del
ENST00000484181.5:c.*264_*266del	ENSP00000417937.1:n.*264_*266del
ENST00000490504.5:c.1412_1414del	ENSP00000418307.1:p.Gln471del