Linked Data
ClinVar Variation Id:
225447
ClinVar RCV Id:
RCV000490410
dbSNP Id:
rs751875722
gnomAD v2:
2-179296982-C-CTATATCCAAATA
gnomAD v3:
2-178432255-C-CTATATCCAAATA
gnomAD v4:
2-178432255-C-CTATATCCAAATA
MyVariant Identifiers:
chr2:g.179296982_179296983insTATATCCAAATA (hg19)
chr2:g.178432255_178432256insTATATCCAAATA (hg38)
PubMed:
PMID:18243799
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178432256_178432257insATATCCAAATAT , CM000664.2:g.178432256_178432257insATATCCAAATAT | GRCh38 |
| NC_000002.11:g.179296983_179296984insATATCCAAATAT , CM000664.1:g.179296983_179296984insATATCCAAATAT | GRCh37 |
| NC_000002.10:g.179005229_179005230insATATCCAAATAT | NCBI36 |
| NG_009053.1:g.23976_23977insTATTTGGATATA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325748.9:c.785-2_785-1insTATTTGGATATA (PRKRA) MANE Select | ENSP00000318176.4:n.785-2_785-1insTATTTGGATATA | |
| ENST00000448279.2:c.*513-2_*513-1insTATTTGGATATA (PRKRA) | ENSP00000388455.1:n.*513-2_*513-1insTATTTGGATATA | |
| ENST00000457633.2:c.*289-2_*289-1insTATTTGGATATA (PRKRA) | ENSP00000408668.2:n.*289-2_*289-1insTATTTGGATATA | |
| ENST00000474793.6:n.926-2_926-1insTATTTGGATATA (PRKRA) | ||
| ENST00000676505.1:c.*545-2_*545-1insTATTTGGATATA (PRKRA) | ENSP00000504163.1:n.*545-2_*545-1insTATTTGGATATA | |
| ENST00000676586.1:n.2922-2_2922-1insTATTTGGATATA (PRKRA) | ||
| ENST00000676752.1:n.2684-2_2684-1insTATTTGGATATA (PRKRA) | ||
| ENST00000676832.1:c.*606-2_*606-1insTATTTGGATATA (PRKRA) | ENSP00000503231.1:n.*606-2_*606-1insTATTTGGATATA | |
| ENST00000676922.1:c.*513-2_*513-1insTATTTGGATATA (PRKRA) | ENSP00000503369.1:n.*513-2_*513-1insTATTTGGATATA | |
| ENST00000677136.1:n.2777-2_2777-1insTATTTGGATATA (PRKRA) | ||
| ENST00000677206.1:c.*577-2_*577-1insTATTTGGATATA (PRKRA) | ENSP00000503034.1:n.*577-2_*577-1insTATTTGGATATA | |
| ENST00000677253.1:c.*482-2_*482-1insTATTTGGATATA (PRKRA) | ENSP00000503466.1:n.*482-2_*482-1insTATTTGGATATA | |
| ENST00000677386.1:c.*228-2_*228-1insTATTTGGATATA (PRKRA) | ENSP00000503003.1:n.*228-2_*228-1insTATTTGGATATA | |
| ENST00000677460.1:c.*114-2_*114-1insTATTTGGATATA (PRKRA) | ENSP00000504507.1:n.*114-2_*114-1insTATTTGGATATA | |
| ENST00000677584.1:c.*623-2_*623-1insTATTTGGATATA (PRKRA) | ENSP00000504411.1:n.*623-2_*623-1insTATTTGGATATA | |
| ENST00000677689.1:c.530-2_530-1insTATTTGGATATA (PRKRA) | ENSP00000502919.1:n.530-2_530-1insTATTTGGATATA | |
| ENST00000677859.1:c.638-2_638-1insTATTTGGATATA (PRKRA) | ||
| ENST00000677981.1:c.533-2_533-1insTATTTGGATATA (PRKRA) | ENSP00000503536.1:n.533-2_533-1insTATTTGGATATA | |
| ENST00000678053.1:c.*545-2_*545-1insTATTTGGATATA (PRKRA) | ENSP00000504330.1:n.*545-2_*545-1insTATTTGGATATA | |
| ENST00000678058.1:c.529-2_529-1insTATTTGGATATA (PRKRA) | ENSP00000503203.1:n.529-2_529-1insTATTTGGATATA | |
| ENST00000678167.1:c.*339-2_*339-1insTATTTGGATATA (PRKRA) | ENSP00000504479.1:n.*339-2_*339-1insTATTTGGATATA | |
| ENST00000678775.1:c.446-2_446-1insTATTTGGATATA (PRKRA) | ENSP00000504030.1:n.446-2_446-1insTATTTGGATATA | |
| ENST00000678845.1:c.446-2_446-1insTATTTGGATATA (PRKRA) | ENSP00000503011.1:n.446-2_446-1insTATTTGGATATA | |
| ENST00000679037.1:c.*453-2_*453-1insTATTTGGATATA (PRKRA) | ENSP00000504421.1:n.*453-2_*453-1insTATTTGGATATA | |
| ENST00000679202.1:n.1872-2_1872-1insTATTTGGATATA (PRKRA) | ||
| ENST00000325748.8:c.785-2_785-1insTATTTGGATATA (PRKRA) | ENSP00000318176.4:n.785-2_785-1insTATTTGGATATA | |
| ENST00000424699.5:c.*577-2_*577-1insTATTTGGATATA (PRKRA) | ENSP00000408029.1:n.*577-2_*577-1insTATTTGGATATA | |
| ENST00000432031.6:c.752-2_752-1insTATTTGGATATA (PRKRA) | ENSP00000393883.2:n.752-2_752-1insTATTTGGATATA | |
| ENST00000487082.5:c.710-2_710-1insTATTTGGATATA (PRKRA) | ENSP00000430604.1:n.710-2_710-1insTATTTGGATATA | |
| ENST00000490501.5:n.1012-2_1012-1insTATTTGGATATA (PRKRA) | ||
| NM_001139517.1:c.752-2_752-1insTATTTGGATATA (PRKRA) | NP_001132989.1:n.752-2_752-1insTATTTGGATATA | |
| NM_001139518.1:c.710-2_710-1insTATTTGGATATA (PRKRA) | NP_001132990.1:n.710-2_710-1insTATTTGGATATA | |
| NM_001316362.1:c.446-2_446-1insTATTTGGATATA (PRKRA) | NP_001303291.1:n.446-2_446-1insTATTTGGATATA | |
| NM_003690.4:c.785-2_785-1insTATTTGGATATA (PRKRA) | NP_003681.1:n.785-2_785-1insTATTTGGATATA | |
| NR_110204.1:n.872-1126_872-1125insATATCCAAATAT (CHROMR) | ||
| NR_110205.1:n.716-1126_716-1125insATATCCAAATAT (CHROMR) | ||
| NR_110206.1:n.651-1126_651-1125insATATCCAAATAT (CHROMR) | ||
| XM_005246921.3:c.446-2_446-1insTATTTGGATATA (PRKRA) | XP_005246978.1:n.446-2_446-1insTATTTGGATATA | |
| XM_011512063.1:c.530-2_530-1insTATTTGGATATA (PRKRA) | XP_011510365.1:n.530-2_530-1insTATTTGGATATA | |
| XM_011512064.1:c.530-2_530-1insTATTTGGATATA (PRKRA) | XP_011510366.1:n.530-2_530-1insTATTTGGATATA | |
| XM_011512066.1:c.446-2_446-1insTATTTGGATATA (PRKRA) | XP_011510368.1:n.446-2_446-1insTATTTGGATATA | |
| XM_011512063.2:c.530-2_530-1insTATTTGGATATA (PRKRA) | XP_011510365.1:n.530-2_530-1insTATTTGGATATA | |
| XM_011512066.2:c.446-2_446-1insTATTTGGATATA (PRKRA) | XP_011510368.1:n.446-2_446-1insTATTTGGATATA | |
| XM_017005159.1:c.446-2_446-1insTATTTGGATATA (PRKRA) | XP_016860648.1:n.446-2_446-1insTATTTGGATATA | |
| XR_001739008.2:n.826-2_826-1insTATTTGGATATA (PRKRA) | ||
| NM_003690.5:c.785-2_785-1insTATTTGGATATA (PRKRA) MANE Select | NP_003681.1:n.785-2_785-1insTATTTGGATATA | |
| NM_001316362.2:c.446-2_446-1insTATTTGGATATA (PRKRA) | NP_001303291.1:n.446-2_446-1insTATTTGGATATA |