Canonical Allele Identifier: CA546661795

Gene: PCCB

Linked Data

• gnomAD v2: 3-135980682-GTT-G
• gnomAD v3: 3-136261840-GTT-G
• gnomAD v4: 3-136261840-GTT-G
• MyVariant Identifiers: chr3:g.135980683_135980684del (hg19) ; chr3:g.136261841_136261842del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136261843_136261844del , CM000665.2:g.136261843_136261844del	GRCh38
NC_000003.11:g.135980685_135980686del , CM000665.1:g.135980685_135980686del	GRCh37
NC_000003.10:g.137463375_137463376del	NCBI36
NG_008939.1:g.16519_16520del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251654.9:c.430-109_430-108del MANE Select	ENSP00000251654.4:n.430-109_430-108del
ENST00000251654.8:c.430-109_430-108del	ENSP00000251654.4:n.430-109_430-108del
ENST00000459873.1:c.181-109_181-108del	ENSP00000419293.1:n.181-109_181-108del
ENST00000462542.5:c.297-109_297-108del
ENST00000462637.5:c.361-109_361-108del	ENSP00000420391.1:n.361-109_361-108del
ENST00000465176.5:n.392-109_392-108del
ENST00000465423.5:c.517-109_517-108del	ENSP00000419263.1:n.517-109_517-108del
ENST00000466072.5:c.430-109_430-108del	ENSP00000420158.1:n.430-109_430-108del
ENST00000468777.5:c.523-109_523-108del	ENSP00000419129.1:n.523-109_523-108del
ENST00000469217.5:c.490-109_490-108del	ENSP00000419027.1:n.490-109_490-108del
ENST00000471595.5:c.430-109_430-108del	ENSP00000417549.1:n.430-109_430-108del
ENST00000473073.1:n.387-109_387-108del
ENST00000474833.5:n.168+11285_168+11286del
ENST00000475214.5:n.344-109_344-108del
ENST00000478469.5:c.430-109_430-108del	ENSP00000420759.1:n.430-109_430-108del
ENST00000482086.5:c.94-121_94-120del	ENSP00000417253.1:n.94-121_94-120del
ENST00000483687.5:c.373-109_373-108del	ENSP00000420639.1:n.373-109_373-108del
ENST00000484181.5:c.430-109_430-108del	ENSP00000417937.1:n.430-109_430-108del
ENST00000490504.5:c.372+5220_372+5221del	ENSP00000418307.1:n.372+5220_372+5221del
ENST00000494742.5:c.181-109_181-108del	ENSP00000418020.1:n.181-109_181-108del
NM_000532.4:c.430-109_430-108del	NP_000523.2:n.430-109_430-108del
NM_001178014.1:c.490-109_490-108del	NP_001171485.1:n.490-109_490-108del
XM_011512873.1:c.430-109_430-108del	XP_011511175.1:n.430-109_430-108del
XM_011512873.2:c.430-109_430-108del	XP_011511175.1:n.430-109_430-108del
NM_000532.5:c.430-109_430-108del MANE Select	NP_000523.2:n.430-109_430-108del
NM_001178014.2:c.490-109_490-108del	NP_001171485.1:n.490-109_490-108del