Canonical Allele Identifier: CA2272264133
Gene: PRKAR1A HGNC NCBI
FAM20A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.68540888_68540893delinsGGAGCC , CM000679.2:g.68540888_68540893delinsGGAGCC GRCh38
NC_000017.10:g.66537029_66537034delinsGGAGCC , CM000679.1:g.66537029_66537034delinsGGAGCC GRCh37
NC_000017.9:g.64048624_64048629delinsGGAGCC NCBI36
NG_007093.3:g.132266_132271delinsGGAGCC , LRG_514:g.132266_132271delinsGGAGCC
NG_029809.1:g.65062_65067delinsGGCTCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000588188.7:c.974-10196_974-10191delinsGGAGCC (PRKAR1A) ENSP00000468106.2:n.974-10196_974-10191delinsGGAGCC
ENST00000711037.1:c.974-10196_974-10191delinsGGAGCC (PRKAR1A) ENSP00000518555.1:n.974-10196_974-10191delinsGGAGCC
ENST00000585981.6:c.974-10196_974-10191delinsGGAGCC (PRKAR1A) ENSP00000467311.2:n.974-10196_974-10191delinsGGAGCC
ENST00000592554.2:c.1175_1180delinsGGCTCC (FAM20A) MANE Select ENSP00000468308.1:p.Arg392=
ENST00000226094.9:n.853_858delinsGGCTCC (FAM20A)
ENST00000375556.8:n.1099_1104delinsGGCTCC (FAM20A)
ENST00000588188.6:c.974-10196_974-10191delinsGGAGCC (PRKAR1A) ENSP00000468106.2:n.974-10196_974-10191delinsGGAGCC
ENST00000590074.5:c.1331_1336delinsGGCTCC (FAM20A)
ENST00000590873.5:c.42-927_42-922delinsGGCTCC (FAM20A) ENSP00000467884.1:n.42-927_42-922delinsGGCTCC
ENST00000592554.1:c.1175_1180delinsGGCTCC (FAM20A) ENSP00000468308.1:p.Arg392=
NM_001243746.1:c.761_766delinsGGCTCC (FAM20A) NP_001230675.1:p.Arg254=
NM_001276290.1:c.974-10196_974-10191delinsGGAGCC (PRKAR1A) NP_001263219.1:n.974-10196_974-10191delinsGGAGCC
NM_017565.3:c.1175_1180delinsGGCTCC (FAM20A) NP_060035.2:p.Arg392=
NR_027751.1:n.890_895delinsGGCTCC (FAM20A)
XM_006721959.2:c.761_766delinsGGCTCC (FAM20A) XP_006722022.1:p.Arg254=
XM_006721960.2:c.*39_*44delinsGGCTCC (FAM20A) XP_006722023.1:n.*39_*44delinsGGCTCC
XM_011524917.1:c.1055_1060delinsGGCTCC (FAM20A) XP_011523219.1:p.Arg352=
XM_011524921.1:c.*39_*44delinsGGCTCC (FAM20A) XP_011523223.1:n.*39_*44delinsGGCTCC
XR_934486.1:n.1303_1308delinsGGCTCC (FAM20A)
XR_934487.1:n.1303_1308delinsGGCTCC (FAM20A)
XR_934488.1:n.1613_1618delinsGGCTCC (FAM20A)
XR_934489.1:n.1212_1217delinsGGCTCC (FAM20A)
XR_934490.1:n.1212_1217delinsGGCTCC (FAM20A)
XM_006721959.3:c.761_766delinsGGCTCC (FAM20A) XP_006722022.1:p.Arg254=
XR_001752543.2:n.1488_1493delinsGGCTCC (FAM20A)
XR_001752544.2:n.1271_1276delinsGGCTCC (FAM20A)
XR_002958041.1:n.1246_1251delinsGGCTCC (FAM20A)
XR_934487.3:n.1246_1251delinsGGCTCC (FAM20A)
NM_017565.4:c.1175_1180delinsGGCTCC (FAM20A) MANE Select NP_060035.2:p.Arg392=
NM_001243746.2:c.761_766delinsGGCTCC (FAM20A) NP_001230675.1:p.Arg254=
NR_027751.2:n.890_895delinsGGCTCC (FAM20A)