Canonical Allele Identifier: CA546662062

Gene: PCCB

Linked Data

• dbSNP Id: rs1559998839
• gnomAD v2: 3-135980929-AAT-A
• gnomAD v4: 3-136262087-AAT-A
• MyVariant Identifiers: chr3:g.135980930_135980931del (hg19) ; chr3:g.136262088_136262089del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136262089_136262090del , CM000665.2:g.136262089_136262090del	GRCh38
NC_000003.11:g.135980931_135980932del , CM000665.1:g.135980931_135980932del	GRCh37
NC_000003.10:g.137463621_137463622del	NCBI36
NG_008939.1:g.16765_16766del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251654.9:c.543+24_543+25del MANE Select	ENSP00000251654.4:n.543+24_543+25del
ENST00000251654.8:c.543+24_543+25del	ENSP00000251654.4:n.543+24_543+25del
ENST00000459873.1:c.294+24_294+25del	ENSP00000419293.1:n.294+24_294+25del
ENST00000462542.5:c.410+24_410+25del
ENST00000462637.5:c.474+24_474+25del	ENSP00000420391.1:n.474+24_474+25del
ENST00000465176.5:n.505+24_505+25del
ENST00000466072.5:c.543+24_543+25del	ENSP00000420158.1:n.543+24_543+25del
ENST00000468777.5:c.636+24_636+25del	ENSP00000419129.1:n.636+24_636+25del
ENST00000469217.5:c.603+24_603+25del	ENSP00000419027.1:n.603+24_603+25del
ENST00000471595.5:c.543+24_543+25del	ENSP00000417549.1:n.543+24_543+25del
ENST00000473073.1:n.500+24_500+25del
ENST00000474833.5:n.168+11531_168+11532del
ENST00000475214.5:n.457+24_457+25del
ENST00000478469.5:c.543+24_543+25del	ENSP00000420759.1:n.543+24_543+25del
ENST00000482086.5:c.195+24_195+25del	ENSP00000417253.1:n.195+24_195+25del
ENST00000483687.5:c.486+24_486+25del	ENSP00000420639.1:n.486+24_486+25del
ENST00000484181.5:c.543+24_543+25del	ENSP00000417937.1:n.543+24_543+25del
ENST00000490504.5:c.372+5466_372+5467del	ENSP00000418307.1:n.372+5466_372+5467del
NM_000532.4:c.543+24_543+25del	NP_000523.2:n.543+24_543+25del
NM_001178014.1:c.603+24_603+25del	NP_001171485.1:n.603+24_603+25del
XM_011512873.1:c.543+24_543+25del	XP_011511175.1:n.543+24_543+25del
XM_011512873.2:c.543+24_543+25del	XP_011511175.1:n.543+24_543+25del
NM_000532.5:c.543+24_543+25del MANE Select	NP_000523.2:n.543+24_543+25del
NM_001178014.2:c.603+24_603+25del	NP_001171485.1:n.603+24_603+25del