Canonical Allele Identifier: CA1404288081

Gene: PCCB

Linked Data

• dbSNP Id: rs1941849319

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136262284_136262285del , CM000665.2:g.136262284_136262285del	GRCh38
NC_000003.11:g.135981126_135981127del , CM000665.1:g.135981126_135981127del	GRCh37
NC_000003.10:g.137463816_137463817del	NCBI36
NG_008939.1:g.16960_16961del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251654.9:c.543+219_543+220del MANE Select	ENSP00000251654.4:n.543+219_543+220del
ENST00000251654.8:c.543+219_543+220del	ENSP00000251654.4:n.543+219_543+220del
ENST00000459873.1:c.294+219_294+220del	ENSP00000419293.1:n.294+219_294+220del
ENST00000462542.5:c.410+219_410+220del
ENST00000462637.5:c.474+219_474+220del	ENSP00000420391.1:n.474+219_474+220del
ENST00000465176.5:n.505+219_505+220del
ENST00000466072.5:c.543+219_543+220del	ENSP00000420158.1:n.543+219_543+220del
ENST00000468777.5:c.636+219_636+220del	ENSP00000419129.1:n.636+219_636+220del
ENST00000469217.5:c.603+219_603+220del	ENSP00000419027.1:n.603+219_603+220del
ENST00000471595.5:c.543+219_543+220del	ENSP00000417549.1:n.543+219_543+220del
ENST00000473073.1:n.500+219_500+220del
ENST00000474833.5:n.168+11726_168+11727del
ENST00000475214.5:n.457+219_457+220del
ENST00000478469.5:c.543+219_543+220del	ENSP00000420759.1:n.543+219_543+220del
ENST00000482086.5:c.195+219_195+220del	ENSP00000417253.1:n.195+219_195+220del
ENST00000483687.5:c.486+219_486+220del	ENSP00000420639.1:n.486+219_486+220del
ENST00000484181.5:c.543+219_543+220del	ENSP00000417937.1:n.543+219_543+220del
ENST00000490504.5:c.372+5661_372+5662del	ENSP00000418307.1:n.372+5661_372+5662del
NM_000532.4:c.543+219_543+220del	NP_000523.2:n.543+219_543+220del
NM_001178014.1:c.603+219_603+220del	NP_001171485.1:n.603+219_603+220del
XM_011512873.1:c.543+219_543+220del	XP_011511175.1:n.543+219_543+220del
XM_011512873.2:c.543+219_543+220del	XP_011511175.1:n.543+219_543+220del
NM_000532.5:c.543+219_543+220del MANE Select	NP_000523.2:n.543+219_543+220del
NM_001178014.2:c.603+219_603+220del	NP_001171485.1:n.603+219_603+220del