Canonical Allele Identifier: CA16043001
Gene: PRKAR1A HGNC NCBI
FAM20A HGNC NCBI

Linked Data

ClinVar Variation Id: 372476
ClinVar RCV Id: RCV000414079
dbSNP Id: rs1057517806
MyVariant Identifiers: chr17:g.66526566_66526567del (hg19) chr17:g.68530425_68530426del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.68530425_68530426del , CM000679.2:g.68530425_68530426del GRCh38
NC_000017.10:g.66526566_66526567del , CM000679.1:g.66526566_66526567del GRCh37
NC_000017.9:g.64038161_64038162del NCBI36
NG_007093.3:g.121803_121804del , LRG_514:g.121803_121804del

Transcript Alleles

HGVS Amino-acid change
ENST00000588188.7:c.973+424_973+425del (PRKAR1A) ENSP00000468106.2:n.973+424_973+425del
ENST00000711037.1:c.973+424_973+425del (PRKAR1A) ENSP00000518555.1:n.973+424_973+425del
ENST00000585427.6:c.1122_1123del (PRKAR1A) ENSP00000464715.2:p.Asn374LysfsTer?
ENST00000585981.6:c.973+424_973+425del (PRKAR1A) ENSP00000467311.2:n.973+424_973+425del
ENST00000588178.6:c.1122_1123del (PRKAR1A) ENSP00000465013.2:p.Asn374LysfsTer?
ENST00000589017.6:c.1122_1123del (PRKAR1A) ENSP00000465445.2:p.Asn374LysfsTer?
ENST00000589480.6:c.1122_1123del (PRKAR1A) ENSP00000466649.2:p.Asn374LysfsTer?
ENST00000592800.6:c.*347_*348del (PRKAR1A) ENSP00000466314.2:n.*347_*348del
ENST00000686019.1:n.2169_2170del (PRKAR1A)
ENST00000689501.1:n.3314_3315del (PRKAR1A)
ENST00000691392.1:n.2089_2090del (PRKAR1A)
ENST00000589228.6:c.1122_1123del (PRKAR1A) MANE Select ENSP00000464977.2:p.Asn374LysfsTer?
ENST00000358598.6:c.1122_1123del (PRKAR1A) ENSP00000351410.1:p.Asn374LysfsTer?
ENST00000392710.8:c.*737_*738del (PRKAR1A) ENSP00000376474.4:n.*737_*738del
ENST00000392711.5:c.1122_1123del (PRKAR1A) ENSP00000376475.1:p.Asn374LysfsTer?
ENST00000536854.6:c.1122_1123del (PRKAR1A) ENSP00000445625.1:p.Asn374LysfsTer?
ENST00000586397.5:c.1122_1123del (PRKAR1A) ENSP00000466459.1:p.Asn374LysfsTer?
ENST00000586541.5:c.534_535del (PRKAR1A)
ENST00000588188.6:c.973+424_973+425del (PRKAR1A) ENSP00000468106.2:n.973+424_973+425del
ENST00000589228.5:c.1122_1123del (PRKAR1A) ENSP00000464977.1:p.Asn374LysfsTer?
ENST00000592800.5:c.807_808del (PRKAR1A)
NM_001276289.1:c.1122_1123del (PRKAR1A) NP_001263218.1:p.Asn374LysfsTer?
NM_001276290.1:c.973+424_973+425del (PRKAR1A) NP_001263219.1:n.973+424_973+425del
NM_001278433.1:c.1122_1123del (PRKAR1A) NP_001265362.1:p.Asn374LysfsTer?
NM_002734.4:c.1122_1123del , LRG_514t1:c.1122_1123del (PRKAR1A) NP_002725.1:p.Asn374LysfsTer?
NM_212471.2:c.1122_1123del (PRKAR1A) NP_997636.1:p.Asn374LysfsTer?
NM_212472.2:c.1122_1123del , LRG_514t2:c.1122_1123del (PRKAR1A) NP_997637.1:p.Asn374LysfsTer?
XM_011524983.1:c.1122_1123del (PRKAR1A) XP_011523285.1:p.Asn374LysfsTer?
XM_011524984.1:c.1122_1123del (PRKAR1A) XP_011523286.1:p.Asn374LysfsTer?
XM_011524985.1:c.1122_1123del (PRKAR1A) XP_011523287.1:p.Asn374LysfsTer?
XM_006721959.3:c.*7052_*7053del (FAM20A) XP_006722022.1:n.*7052_*7053del
XM_011524983.3:c.1122_1123del (PRKAR1A) XP_011523285.1:p.Asn374LysfsTer?
XM_011524984.3:c.1122_1123del (PRKAR1A) XP_011523286.1:p.Asn374LysfsTer?
XM_011524985.3:c.1122_1123del (PRKAR1A) XP_011523287.1:p.Asn374LysfsTer?
XR_001752544.2:n.8774_8775del (FAM20A)
XR_002958041.1:n.8926_8927del (FAM20A)
NM_001369389.1:c.1122_1123del (PRKAR1A) NP_001356318.1:p.Asn374LysfsTer?
NM_001369390.1:c.1122_1123del (PRKAR1A) NP_001356319.1:p.Asn374LysfsTer?
NM_002734.5:c.1122_1123del (PRKAR1A) MANE Select NP_002725.1:p.Asn374LysfsTer?
NM_001276289.2:c.1122_1123del (PRKAR1A) NP_001263218.1:p.Asn374LysfsTer?
NM_001278433.2:c.1122_1123del (PRKAR1A) NP_001265362.1:p.Asn374LysfsTer?
NM_212471.3:c.1122_1123del (PRKAR1A) NP_997636.1:p.Asn374LysfsTer?
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