Canonical Allele Identifier: CA2667842976

Gene: PCCB

Linked Data

• gnomAD v4: 3-136329852-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136329853del , CM000665.2:g.136329853del	GRCh38
NC_000003.11:g.136048695del , CM000665.1:g.136048695del	GRCh37
NC_000003.10:g.137531385del	NCBI36
NG_008939.1:g.84529del

Transcript Alleles

HGVS	Amino-acid change
ENST00000251654.9:c.1499-52del MANE Select	ENSP00000251654.4:n.1499-52del
ENST00000251654.8:c.1499-52del	ENSP00000251654.4:n.1499-52del
ENST00000462637.5:c.1430-52del	ENSP00000420391.1:n.1430-52del
ENST00000466072.5:c.1559-52del	ENSP00000420158.1:n.1559-52del
ENST00000468777.5:c.1592-52del	ENSP00000419129.1:n.1592-52del
ENST00000469217.5:c.1559-52del	ENSP00000419027.1:n.1559-52del
ENST00000471595.5:c.1499-52del	ENSP00000417549.1:n.1499-52del
ENST00000473073.1:n.1700-52del
ENST00000478469.5:c.885-4427del	ENSP00000420759.1:n.885-4427del
ENST00000482086.5:c.1151-52del	ENSP00000417253.1:n.1151-52del
ENST00000483687.5:c.1442-52del	ENSP00000420639.1:n.1442-52del
ENST00000484181.5:c.*180-52del	ENSP00000417937.1:n.*180-52del
ENST00000490504.5:c.1328-52del	ENSP00000418307.1:n.1328-52del
NM_000532.4:c.1499-52del	NP_000523.2:n.1499-52del
NM_001178014.1:c.1559-52del	NP_001171485.1:n.1559-52del
NM_000532.5:c.1499-52del MANE Select	NP_000523.2:n.1499-52del
NM_001178014.2:c.1559-52del	NP_001171485.1:n.1559-52del