Canonical Allele Identifier: CA341226
Gene: PRKAR1A HGNC NCBI

Linked Data

ClinVar Variation Id: 12665
ClinVar RCV Id: RCV000013501
dbSNP Id: rs281864791

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.68525822_68525825del , CM000679.2:g.68525822_68525825del GRCh38
NC_000017.10:g.66521963_66521966del , CM000679.1:g.66521963_66521966del GRCh37
NC_000017.9:g.64033558_64033561del NCBI36
NG_007093.3:g.117200_117203del , LRG_514:g.117200_117203del

Transcript Alleles

HGVS Amino-acid change
ENST00000588188.7:c.618_621del ENSP00000468106.2:p.Ile206MetfsTer15
ENST00000711037.1:c.618_621del ENSP00000518555.1:p.Ile206MetfsTer15
ENST00000585427.6:c.618_621del ENSP00000464715.2:p.Ile206MetfsTer15
ENST00000585981.6:c.618_621del ENSP00000467311.2:p.Ile206MetfsTer15
ENST00000588178.6:c.618_621del ENSP00000465013.2:p.Ile206MetfsTer15
ENST00000589017.6:c.618_621del ENSP00000465445.2:p.Ile206MetfsTer15
ENST00000589480.6:c.618_621del ENSP00000466649.2:p.Ile206MetfsTer15
ENST00000592800.6:c.618_621del ENSP00000466314.2:p.Ile206MetfsTer15
ENST00000686019.1:n.737_740del
ENST00000689501.1:n.2810_2813del
ENST00000691392.1:n.1585_1588del
ENST00000589228.6:c.618_621del MANE Select ENSP00000464977.2:p.Ile206MetfsTer15
ENST00000358598.6:c.618_621del ENSP00000351410.1:p.Ile206MetfsTer15
ENST00000392710.8:c.*233_*236del ENSP00000376474.4:n.*233_*236del
ENST00000392711.5:c.618_621del ENSP00000376475.1:p.Ile206MetfsTer15
ENST00000536854.6:c.618_621del ENSP00000445625.1:p.Ile206MetfsTer15
ENST00000585608.5:c.*233_*236del ENSP00000466722.1:n.*233_*236del
ENST00000585981.5:c.618_621del ENSP00000467311.1:p.Ile206MetfsTer15
ENST00000586397.5:c.618_621del ENSP00000466459.1:p.Ile206MetfsTer15
ENST00000588188.6:c.618_621del ENSP00000468106.2:p.Ile206MetfsTer15
ENST00000589228.5:c.618_621del ENSP00000464977.1:p.Ile206MetfsTer15
ENST00000592800.5:c.28_31del
NM_001276289.1:c.618_621del NP_001263218.1:p.Ile206MetfsTer15
NM_001276290.1:c.618_621del NP_001263219.1:p.Ile206MetfsTer15
NM_001278433.1:c.618_621del NP_001265362.1:p.Ile206MetfsTer15
NM_002734.4:c.618_621del , LRG_514t1:c.618_621del NP_002725.1:p.Ile206MetfsTer15
NM_212471.2:c.618_621del NP_997636.1:p.Ile206MetfsTer15
NM_212472.2:c.618_621del , LRG_514t2:c.618_621del NP_997637.1:p.Ile206MetfsTer15
XM_011524983.1:c.618_621del XP_011523285.1:p.Ile206MetfsTer15
XM_011524984.1:c.618_621del XP_011523286.1:p.Ile206MetfsTer15
XM_011524985.1:c.618_621del XP_011523287.1:p.Ile206MetfsTer15
XM_011524983.3:c.618_621del XP_011523285.1:p.Ile206MetfsTer15
XM_011524984.3:c.618_621del XP_011523286.1:p.Ile206MetfsTer15
XM_011524985.3:c.618_621del XP_011523287.1:p.Ile206MetfsTer15
NM_001369389.1:c.618_621del NP_001356318.1:p.Ile206MetfsTer15
NM_001369390.1:c.618_621del NP_001356319.1:p.Ile206MetfsTer15
NM_002734.5:c.618_621del MANE Select NP_002725.1:p.Ile206MetfsTer15
NM_001276289.2:c.618_621del NP_001263218.1:p.Ile206MetfsTer15
NM_001278433.2:c.618_621del NP_001265362.1:p.Ile206MetfsTer15
NM_212471.3:c.618_621del NP_997636.1:p.Ile206MetfsTer15