Canonical Allele Identifier: CA1028789943

Gene: PPP1CB

Linked Data

• dbSNP Id: rs1667058992
• gnomAD v3: 2-28777109-AGT-A
• gnomAD v4: 2-28777109-AGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.28777112_28777113del , CM000664.2:g.28777112_28777113del	GRCh38
NC_000002.11:g.28999978_28999979del , CM000664.1:g.28999978_28999979del	GRCh37
NC_000002.10:g.28853482_28853483del	NCBI36
NG_052878.1:g.30365_30366del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000418910.2:c.184+130_184+131del	ENSP00000388056.2:n.184+130_184+131del
ENST00000420282.6:c.184+130_184+131del	ENSP00000398839.2:n.184+130_184+131del
ENST00000427786.2:c.100+130_100+131del	ENSP00000394589.1:n.100+130_100+131del
ENST00000441461.6:c.184+130_184+131del	ENSP00000414918.2:n.184+130_184+131del
ENST00000455580.6:c.100+130_100+131del	ENSP00000390715.2:n.100+130_100+131del
ENST00000703171.1:c.184+130_184+131del	ENSP00000515217.1:n.184+130_184+131del
ENST00000703172.1:c.100+130_100+131del	ENSP00000515218.1:n.100+130_100+131del
ENST00000703173.1:c.184+130_184+131del	ENSP00000515219.1:n.184+130_184+131del
ENST00000703174.1:c.184+130_184+131del	ENSP00000515220.1:n.184+130_184+131del
ENST00000703176.1:c.151+130_151+131del	ENSP00000515221.1:n.151+130_151+131del
ENST00000703177.1:c.100+130_100+131del	ENSP00000515222.1:n.100+130_100+131del
ENST00000395366.3:c.184+130_184+131del MANE Select	ENSP00000378769.2:n.184+130_184+131del
ENST00000296122.10:c.184+130_184+131del	ENSP00000296122.6:n.184+130_184+131del
ENST00000358506.6:c.184+130_184+131del	ENSP00000351298.2:n.184+130_184+131del
ENST00000395366.2:c.184+130_184+131del	ENSP00000378769.2:n.184+130_184+131del
ENST00000420282.5:c.184+130_184+131del	ENSP00000398839.1:n.184+130_184+131del
ENST00000427786.1:c.100+130_100+131del	ENSP00000394589.1:n.100+130_100+131del
ENST00000441461.5:c.184+130_184+131del	ENSP00000414918.1:n.184+130_184+131del
ENST00000455580.5:c.100+130_100+131del	ENSP00000390715.1:n.100+130_100+131del
ENST00000464273.1:n.428_429del
NM_002709.2:c.184+130_184+131del	NP_002700.1:n.184+130_184+131del
NM_206876.1:c.184+130_184+131del	NP_996759.1:n.184+130_184+131del
NM_002709.3:c.184+130_184+131del MANE Select	NP_002700.1:n.184+130_184+131del
NM_206876.2:c.184+130_184+131del	NP_996759.1:n.184+130_184+131del