Canonical Allele Identifier: CA546662074

Gene: PCCB

Linked Data

• dbSNP Id: rs1378836816
• gnomAD v2: 3-135981069-AAAGC-A
• gnomAD v3: 3-136262227-AAAGC-A
• gnomAD v4: 3-136262227-AAAGC-A
• MyVariant Identifiers: chr3:g.135981070_135981073del (hg19) ; chr3:g.136262228_136262231del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136262231_136262234del , CM000665.2:g.136262231_136262234del	GRCh38
NC_000003.11:g.135981073_135981076del , CM000665.1:g.135981073_135981076del	GRCh37
NC_000003.10:g.137463763_137463766del	NCBI36
NG_008939.1:g.16907_16910del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251654.9:c.543+166_543+169del MANE Select	ENSP00000251654.4:n.543+166_543+169del
ENST00000251654.8:c.543+166_543+169del	ENSP00000251654.4:n.543+166_543+169del
ENST00000459873.1:c.294+166_294+169del	ENSP00000419293.1:n.294+166_294+169del
ENST00000462542.5:c.410+166_410+169del
ENST00000462637.5:c.474+166_474+169del	ENSP00000420391.1:n.474+166_474+169del
ENST00000465176.5:n.505+166_505+169del
ENST00000466072.5:c.543+166_543+169del	ENSP00000420158.1:n.543+166_543+169del
ENST00000468777.5:c.636+166_636+169del	ENSP00000419129.1:n.636+166_636+169del
ENST00000469217.5:c.603+166_603+169del	ENSP00000419027.1:n.603+166_603+169del
ENST00000471595.5:c.543+166_543+169del	ENSP00000417549.1:n.543+166_543+169del
ENST00000473073.1:n.500+166_500+169del
ENST00000474833.5:n.168+11673_168+11676del
ENST00000475214.5:n.457+166_457+169del
ENST00000478469.5:c.543+166_543+169del	ENSP00000420759.1:n.543+166_543+169del
ENST00000482086.5:c.195+166_195+169del	ENSP00000417253.1:n.195+166_195+169del
ENST00000483687.5:c.486+166_486+169del	ENSP00000420639.1:n.486+166_486+169del
ENST00000484181.5:c.543+166_543+169del	ENSP00000417937.1:n.543+166_543+169del
ENST00000490504.5:c.372+5608_372+5611del	ENSP00000418307.1:n.372+5608_372+5611del
NM_000532.4:c.543+166_543+169del	NP_000523.2:n.543+166_543+169del
NM_001178014.1:c.603+166_603+169del	NP_001171485.1:n.603+166_603+169del
XM_011512873.1:c.543+166_543+169del	XP_011511175.1:n.543+166_543+169del
XM_011512873.2:c.543+166_543+169del	XP_011511175.1:n.543+166_543+169del
NM_000532.5:c.543+166_543+169del MANE Select	NP_000523.2:n.543+166_543+169del
NM_001178014.2:c.603+166_603+169del	NP_001171485.1:n.603+166_603+169del