Canonical Allele Identifier: CA849915499

Gene: PPP3CC

Linked Data

• dbSNP Id: rs1416047816
• gnomAD v3: 8-22447398-GGTCTCGGTCTCCTGACCTCGTGATCCGCCC-G
• gnomAD v4: 8-22447398-GGTCTCGGTCTCCTGACCTCGTGATCCGCCC-G
• MyVariant Identifiers: chr8:g.22304912_22304941del (hg19) ; chr8:g.22447399_22447428del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.22447406_22447435del , CM000670.2:g.22447406_22447435del	GRCh38
NC_000008.10:g.22304919_22304948del , CM000670.1:g.22304919_22304948del	GRCh37
NC_000008.9:g.22360864_22360893del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000240139.10:c.49+5948_49+5977del MANE Select	ENSP00000240139.5:n.49+5948_49+5977del
ENST00000240139.9:c.49+5948_49+5977del	ENSP00000240139.5:n.49+5948_49+5977del
ENST00000289963.12:c.49+5948_49+5977del	ENSP00000289963.8:n.49+5948_49+5977del
ENST00000397775.7:c.49+5948_49+5977del	ENSP00000380878.3:n.49+5948_49+5977del
ENST00000518852.5:c.49+5948_49+5977del	ENSP00000429379.1:n.49+5948_49+5977del
ENST00000522000.1:c.94+5948_94+5977del	ENSP00000428358.1:n.94+5948_94+5977del
NM_001243974.1:c.49+5948_49+5977del	NP_001230903.1:n.49+5948_49+5977del
NM_001243975.1:c.49+5948_49+5977del	NP_001230904.1:n.49+5948_49+5977del
NM_005605.4:c.49+5948_49+5977del	NP_005596.2:n.49+5948_49+5977del
XM_005273564.1:c.49+5948_49+5977del	XP_005273621.1:n.49+5948_49+5977del
XR_949434.1:n.489+5948_489+5977del
XR_949436.1:n.489+5948_489+5977del
XM_017013611.2:c.49+5948_49+5977del	XP_016869100.1:n.49+5948_49+5977del
XR_001745553.2:n.406+5948_406+5977del
XR_001745554.2:n.406+5948_406+5977del
XR_001745555.2:n.406+5948_406+5977del
XR_001745556.2:n.406+5948_406+5977del
XR_001745557.2:n.406+5948_406+5977del
XR_001745558.2:n.406+5948_406+5977del
XR_001745559.2:n.406+5948_406+5977del
NM_001243974.2:c.49+5948_49+5977del	NP_001230903.1:n.49+5948_49+5977del
NM_001243975.2:c.49+5948_49+5977del	NP_001230904.1:n.49+5948_49+5977del
NM_005605.5:c.49+5948_49+5977del MANE Select	NP_005596.2:n.49+5948_49+5977del