Linked Data
ClinVar Variation Id:
590834
dbSNP Id:
rs770237165
ExAC:
7:65425921 G / GCTA
gnomAD v2:
7-65425921-G-GCTA
gnomAD v3:
7-65960934-G-GCTA
gnomAD v4:
7-65960934-G-GCTA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.65960937_65960939dup , CM000669.2:g.65960937_65960939dup | GRCh38 |
| NC_000007.13:g.65425924_65425926dup , CM000669.1:g.65425924_65425926dup | GRCh37 |
| NC_000007.12:g.65063359_65063361dup | NCBI36 |
| NG_016197.1:g.26378_26380dup | |
| NG_051954.1:g.92839_92841dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304895.9:c.1916_1918dup MANE Select | ENSP00000302728.4:p.Val639_Ala640insVal | |
| ENST00000304895.8:c.1916_1918dup | ENSP00000302728.4:p.Val639_Ala640insVal | |
| ENST00000421103.5:c.1478_1480dup | ENSP00000391390.1:p.Val493_Ala494insVal | |
| ENST00000430730.5:c.*1183_*1185dup | ENSP00000411859.1:n.*1183_*1185dup | |
| ENST00000447929.5:c.*1296_*1298dup | ENSP00000411262.1:n.*1296_*1298dup | |
| ENST00000466883.5:n.2306_2308dup | ||
| NM_000181.3:c.1916_1918dup | NP_000172.2:p.Val639_Ala640insVal | |
| NM_001284290.1:c.1478_1480dup | NP_001271219.1:p.Val493_Ala494insVal | |
| NM_001293104.1:c.1346_1348dup | NP_001280033.1:p.Val449_Ala450insVal | |
| NM_001293105.1:c.1259_1261dup | NP_001280034.1:p.Val420_Ala421insVal | |
| NR_120531.1:n.1962_1964dup | ||
| XM_005250297.3:c.1763_1765dup | XP_005250354.1:p.Val588_Ala589insVal | |
| XM_011516113.1:c.1415_1417dup | XP_011514415.1:p.Val472_Ala473insVal | |
| XM_011516114.1:c.1244_1246dup | XP_011514416.1:p.Val415_Ala416insVal | |
| XM_005250297.4:c.1763_1765dup | XP_005250354.1:p.Val588_Ala589insVal | |
| XM_011516114.2:c.1244_1246dup | XP_011514416.1:p.Val415_Ala416insVal | |
| XM_017012091.1:c.1262_1264dup | XP_016867580.1:p.Val421_Ala422insVal | |
| XM_017012092.1:c.1193_1195dup | XP_016867581.1:p.Val398_Ala399insVal | |
| XM_017012093.2:c.1091_1093dup | XP_016867582.1:p.Val364_Ala365insVal | |
| XR_001744658.2:n.1723_1725dup | ||
| XR_001744659.2:n.1836_1838dup | ||
| XR_001744660.2:n.1768_1770dup | ||
| XR_001744661.2:n.1683_1685dup | ||
| XR_927461.3:n.1921_1923dup | ||
| NM_000181.4:c.1916_1918dup MANE Select | NP_000172.2:p.Val639_Ala640insVal | |
| NM_001284290.2:c.1478_1480dup | NP_001271219.1:p.Val493_Ala494insVal | |
| NM_001293104.2:c.1346_1348dup | NP_001280033.1:p.Val449_Ala450insVal | |
| NM_001293105.2:c.1259_1261dup | NP_001280034.1:p.Val420_Ala421insVal | |
| NR_120531.2:n.1861_1863dup |