Canonical Allele Identifier: CA9640140

Gene: PRKCG

Linked Data

• ClinVar Variation Id: 2579987
• ClinVar RCV Id: RCV003328962
• dbSNP Id: rs557551763
• ExAC: 19:54385556 TGGCGGAGCCGGCGCG / T
• gnomAD v2: 19-54385556-TGGCGGAGCCGGCGCG-T
• gnomAD v3: 19-53882302-TGGCGGAGCCGGCGCG-T
• gnomAD v4: 19-53882302-TGGCGGAGCCGGCGCG-T
• MyVariant Identifiers: chr19:g.54385557_54385571del (hg19) ; chr19:g.53882303_53882317del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.53882303_53882317del , CM000681.2:g.53882303_53882317del	GRCh38
NC_000019.9:g.54385557_54385571del , CM000681.1:g.54385557_54385571del	GRCh37
NC_000019.8:g.59077369_59077383del	NCBI36
NG_009114.1:g.5091_5105del , LRG_669:g.5091_5105del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682028.1:c.-192_-178del	ENSP00000507230.1:n.-192_-178del
ENST00000682268.1:n.107_121del
ENST00000682902.1:n.111_125del
ENST00000683513.1:c.-192_-178del	ENSP00000506809.1:n.-192_-178del
ENST00000263431.4:c.-192_-178del MANE Select	ENSP00000263431.3:n.-192_-178del
ENST00000263431.3:c.-192_-178del	ENSP00000263431.3:n.-192_-178del
ENST00000419486.1:c.-379_-365del	ENSP00000387919.2:n.-379_-365del
ENST00000474397.5:c.-322-254_-322-240del	ENSP00000471271.1:n.-322-254_-322-240del
ENST00000479081.5:c.-322-254_-322-240del	ENSP00000471544.1:n.-322-254_-322-240del
NM_001316329.1:c.-192_-178del	NP_001303258.1:n.-192_-178del
NM_002739.3:c.-192_-178del , LRG_669t1:c.-192_-178del	NP_002730.1:n.-192_-178del
NM_002739.4:c.-192_-178del	NP_002730.1:n.-192_-178del
NM_002739.5:c.-192_-178del MANE Select	NP_002730.1:n.-192_-178del
NM_001316329.2:c.-192_-178del	NP_001303258.1:n.-192_-178del