Canonical Allele Identifier: CA1984091

Gene: PRKRA PJVK

Linked Data

• ClinVar Variation Id: 332634
• ClinVar RCV Id: RCV000304508 ; RCV000311895 ; RCV000986933 ; RCV001528997 ; RCV001579908
• dbSNP Id: rs141354030
• ExAC: 2:179315734 GGC / G
• gnomAD v2: 2-179315734-GGC-G
• gnomAD v3: 2-178451007-GGC-G
• gnomAD v4: 2-178451007-GGC-G
• COSMIC: COSM1010052 ; COSM5446353
• MyVariant Identifiers: chr2:g.179315735_179315736del (hg19) ; chr2:g.178451009_178451010del (hg38) ; chr2:g.178451008_178451009del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178451011_178451012del , CM000664.2:g.178451011_178451012del	GRCh38
NC_000002.11:g.179315738_179315739del , CM000664.1:g.179315738_179315739del	GRCh37
NC_000002.10:g.179023984_179023985del	NCBI36
NG_009053.1:g.5223_5224del
NG_012186.1:g.4576_4577del

Transcript Alleles

HGVS	Amino-acid change
ENST00000325748.9:c.22_23del (PRKRA) MANE Select	ENSP00000318176.4:p.Ala8ArgfsTer22
ENST00000457633.2:c.-566_-565del (PRKRA)	ENSP00000408668.2:n.-566_-565del
ENST00000676832.1:c.22_23del (PRKRA)	ENSP00000503231.1:p.Ala8ArgfsTer22
ENST00000676922.1:c.22_23del (PRKRA)	ENSP00000503369.1:p.Ala8ArgfsTer22
ENST00000677253.1:c.22_23del (PRKRA)	ENSP00000503466.1:p.Ala8ArgfsTer22
ENST00000677386.1:c.22_23del (PRKRA)	ENSP00000503003.1:p.Ala8ArgfsTer22
ENST00000677460.1:c.22_23del (PRKRA)	ENSP00000504507.1:p.Ala8ArgfsTer22
ENST00000677584.1:c.22_23del (PRKRA)	ENSP00000504411.1:p.Ala8ArgfsTer22
ENST00000677689.1:c.-113_-112del (PRKRA)	ENSP00000502919.1:n.-113_-112del
ENST00000677806.1:n.270_271del (PRKRA)
ENST00000677981.1:c.22_23del (PRKRA)	ENSP00000503536.1:p.Ala8ArgfsTer19
ENST00000678053.1:c.22_23del (PRKRA)	ENSP00000504330.1:p.Ala8ArgfsTer22
ENST00000678167.1:c.22_23del (PRKRA)	ENSP00000504479.1:p.Ala8ArgfsTer22
ENST00000678775.1:c.-307_-306del (PRKRA)	ENSP00000504030.1:n.-307_-306del
ENST00000678813.1:n.270_271del (PRKRA)
ENST00000678845.1:c.-148_-147del (PRKRA)	ENSP00000503011.1:n.-148_-147del
ENST00000679037.1:c.22_23del (PRKRA)	ENSP00000504421.1:p.Ala8ArgfsTer22
ENST00000325748.8:c.22_23del (PRKRA)	ENSP00000318176.4:p.Ala8ArgfsTer22
ENST00000424699.5:c.22_23del (PRKRA)	ENSP00000408029.1:p.Ala8ArgfsTer22
ENST00000457633.1:c.-566_-565del (PRKRA)	ENSP00000408668.1:n.-566_-565del
ENST00000463882.1:n.165_166del (PRKRA)
ENST00000466165.1:n.105_106del (PRKRA)
ENST00000470200.5:n.145_146del (PRKRA)
NM_001316362.1:c.-428_-427del (PRKRA)	NP_001303291.1:n.-428_-427del
NM_003690.4:c.22_23del (PRKRA)	NP_003681.1:p.Ala8ArgfsTer22
XM_005246921.3:c.-148_-147del (PRKRA)	XP_005246978.1:n.-148_-147del
XM_011511251.1:c.-267+403_-267+404del (PJVK)	XP_011509553.1:n.-267+403_-267+404del
XM_011512063.1:c.-283_-282del (PRKRA)	XP_011510365.1:n.-283_-282del
XM_011512064.1:c.-113_-112del (PRKRA)	XP_011510366.1:n.-113_-112del
XM_011512063.2:c.-283_-282del (PRKRA)	XP_011510365.1:n.-283_-282del
XM_017005159.1:c.-477_-476del (PRKRA)	XP_016860648.1:n.-477_-476del
XR_001739008.2:n.158_159del (PRKRA)
NM_003690.5:c.22_23del (PRKRA) MANE Select	NP_003681.1:p.Ala8ArgfsTer22
NM_001316362.2:c.-428_-427del (PRKRA)	NP_001303291.1:n.-428_-427del