Canonical Allele Identifier: CA16620594
Gene: PRKAR1A HGNC NCBI

Linked Data

ClinVar Variation Id: 424516
ClinVar RCV Id: RCV000479640
dbSNP Id: rs1064797015
MyVariant Identifiers: chr17:g.66520204del (hg19) chr17:g.68524063del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.68524063del , CM000679.2:g.68524063del GRCh38
NC_000017.10:g.66520204del , CM000679.1:g.66520204del GRCh37
NC_000017.9:g.64031799del NCBI36
NG_007093.3:g.115441del , LRG_514:g.115441del

Transcript Alleles

HGVS Amino-acid change
ENST00000588188.7:c.488del ENSP00000468106.2:p.Thr163MetfsTer2
ENST00000711037.1:c.488del ENSP00000518555.1:p.Thr163MetfsTer2
ENST00000585427.6:c.488del ENSP00000464715.2:p.Thr163MetfsTer2
ENST00000585981.6:c.488del ENSP00000467311.2:p.Thr163MetfsTer2
ENST00000588178.6:c.488del ENSP00000465013.2:p.Thr163MetfsTer2
ENST00000589017.6:c.488del ENSP00000465445.2:p.Thr163MetfsTer2
ENST00000589480.6:c.488del ENSP00000466649.2:p.Thr163MetfsTer2
ENST00000592800.6:c.488del ENSP00000466314.2:p.Thr163MetfsTer2
ENST00000686019.1:n.607del
ENST00000689501.1:n.1051del
ENST00000691392.1:n.621del
ENST00000589228.6:c.488del MANE Select ENSP00000464977.2:p.Thr163MetfsTer2
ENST00000358598.6:c.488del ENSP00000351410.1:p.Thr163MetfsTer2
ENST00000392710.8:c.*103del ENSP00000376474.4:n.*103del
ENST00000392711.5:c.488del ENSP00000376475.1:p.Thr163MetfsTer2
ENST00000536854.6:c.488del ENSP00000445625.1:p.Thr163MetfsTer2
ENST00000585460.1:n.613del
ENST00000585608.5:c.*103del ENSP00000466722.1:n.*103del
ENST00000585981.5:c.488del ENSP00000467311.1:p.Thr163MetfsTer2
ENST00000586397.5:c.488del ENSP00000466459.1:p.Thr163MetfsTer2
ENST00000588178.5:c.488del ENSP00000465013.1:p.Thr163MetfsTer2
ENST00000588188.6:c.488del ENSP00000468106.2:p.Thr163MetfsTer2
ENST00000588702.5:c.488del ENSP00000464701.1:p.Thr163MetfsTer2
ENST00000589017.5:c.488del ENSP00000465445.1:p.Thr163MetfsTer2
ENST00000589228.5:c.488del ENSP00000464977.1:p.Thr163MetfsTer2
NM_001276289.1:c.488del NP_001263218.1:p.Thr163MetfsTer2
NM_001276290.1:c.488del NP_001263219.1:p.Thr163MetfsTer2
NM_001278433.1:c.488del NP_001265362.1:p.Thr163MetfsTer2
NM_002734.4:c.488del , LRG_514t1:c.488del NP_002725.1:p.Thr163MetfsTer2
NM_212471.2:c.488del NP_997636.1:p.Thr163MetfsTer2
NM_212472.2:c.488del , LRG_514t2:c.488del NP_997637.1:p.Thr163MetfsTer2
XM_011524983.1:c.488del XP_011523285.1:p.Thr163MetfsTer2
XM_011524984.1:c.488del XP_011523286.1:p.Thr163MetfsTer2
XM_011524985.1:c.488del XP_011523287.1:p.Thr163MetfsTer2
XM_011524983.3:c.488del XP_011523285.1:p.Thr163MetfsTer2
XM_011524984.3:c.488del XP_011523286.1:p.Thr163MetfsTer2
XM_011524985.3:c.488del XP_011523287.1:p.Thr163MetfsTer2
NM_001369389.1:c.488del NP_001356318.1:p.Thr163MetfsTer2
NM_001369390.1:c.488del NP_001356319.1:p.Thr163MetfsTer2
NM_002734.5:c.488del MANE Select NP_002725.1:p.Thr163MetfsTer2
NM_001276289.2:c.488del NP_001263218.1:p.Thr163MetfsTer2
NM_001278433.2:c.488del NP_001265362.1:p.Thr163MetfsTer2
NM_212471.3:c.488del NP_997636.1:p.Thr163MetfsTer2
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