Linked Data
ClinVar Variation Id:
35477
ClinVar RCV Id:
RCV000029152
dbSNP Id:
rs587776913
PubMed:
PMID:21990045
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.68540890_68540894del , CM000679.2:g.68540890_68540894del | GRCh38 |
| NC_000017.10:g.66537031_66537035del , CM000679.1:g.66537031_66537035del | GRCh37 |
| NC_000017.9:g.64048626_64048630del | NCBI36 |
| NG_007093.3:g.132268_132272del , LRG_514:g.132268_132272del | |
| NG_029809.1:g.65062_65066del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000588188.7:c.974-10194_974-10190del (PRKAR1A) | ENSP00000468106.2:n.974-10194_974-10190de... | |
| ENST00000711037.1:c.974-10194_974-10190del (PRKAR1A) | ENSP00000518555.1:n.974-10194_974-10190de... | |
| ENST00000585981.6:c.974-10194_974-10190del (PRKAR1A) | ENSP00000467311.2:n.974-10194_974-10190de... | |
| ENST00000592554.2:c.1175_1179del (FAM20A) MANE Select | ENSP00000468308.1:p.Arg392ProfsTer22 | |
| ENST00000226094.9:n.853_857del (FAM20A) | ||
| ENST00000375556.8:n.1099_1103del (FAM20A) | ||
| ENST00000588188.6:c.974-10194_974-10190del (PRKAR1A) | ENSP00000468106.2:n.974-10194_974-10190de... | |
| ENST00000590074.5:c.1331_1335del (FAM20A) | ||
| ENST00000590873.5:c.42-927_42-923del (FAM20A) | ENSP00000467884.1:n.42-927_42-923del | |
| ENST00000592554.1:c.1175_1179del (FAM20A) | ENSP00000468308.1:p.Arg392ProfsTer22 | |
| NM_001243746.1:c.761_765del (FAM20A) | NP_001230675.1:p.Arg254ProfsTer22 | |
| NM_001276290.1:c.974-10194_974-10190del (PRKAR1A) | NP_001263219.1:n.974-10194_974-10190del | |
| NM_017565.3:c.1175_1179del (FAM20A) | NP_060035.2:p.Arg392ProfsTer22 | |
| NR_027751.1:n.890_894del (FAM20A) | ||
| XM_006721959.2:c.761_765del (FAM20A) | XP_006722022.1:p.Arg254ProfsTer22 | |
| XM_006721960.2:c.*39_*43del (FAM20A) | XP_006722023.1:n.*39_*43del | |
| XM_011524917.1:c.1055_1059del (FAM20A) | XP_011523219.1:p.Arg352ProfsTer22 | |
| XM_011524921.1:c.*39_*43del (FAM20A) | XP_011523223.1:n.*39_*43del | |
| XR_934486.1:n.1303_1307del (FAM20A) | ||
| XR_934487.1:n.1303_1307del (FAM20A) | ||
| XR_934488.1:n.1613_1617del (FAM20A) | ||
| XR_934489.1:n.1212_1216del (FAM20A) | ||
| XR_934490.1:n.1212_1216del (FAM20A) | ||
| XM_006721959.3:c.761_765del (FAM20A) | XP_006722022.1:p.Arg254ProfsTer22 | |
| XR_001752543.2:n.1488_1492del (FAM20A) | ||
| XR_001752544.2:n.1271_1275del (FAM20A) | ||
| XR_002958041.1:n.1246_1250del (FAM20A) | ||
| XR_934487.3:n.1246_1250del (FAM20A) | ||
| NM_017565.4:c.1175_1179del (FAM20A) MANE Select | NP_060035.2:p.Arg392ProfsTer22 | |
| NM_001243746.2:c.761_765del (FAM20A) | NP_001230675.1:p.Arg254ProfsTer22 | |
| NR_027751.2:n.890_894del (FAM20A) |