ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137108537_137108538delinsCA , CM000671.2:g.137108537_137108538delinsCA | GRCh38 |
| NC_000009.11:g.140002989_140002990delinsCA , CM000671.1:g.140002989_140002990delinsCA | GRCh37 |
| NC_000009.10:g.139122810_139122811delinsCA | NCBI36 |
| NG_031978.1:g.26611_26612delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371587.9:c.*1723_*1724delinsCA | ENSP00000483132.2:n.*1723_*1724delinsCA | |
| ENST00000475449.7:c.1860_1861delinsCA | ENSP00000448658.2:p.Ala621Thr | |
| ENST00000535028.6:n.4309_4310delinsCA | ||
| ENST00000535144.6:c.*575_*576delinsCA | ENSP00000441398.3:n.*575_*576delinsCA | |
| ENST00000536268.2:n.3443_3444delinsCA | ||
| ENST00000536349.6:n.4180_4181delinsCA | ||
| ENST00000544448.6:c.*329_*330delinsCA | ENSP00000444966.2:n.*329_*330delinsCA | |
| ENST00000545539.6:c.*1948_*1949delinsCA | ENSP00000440314.2:n.*1948_*1949delinsCA | |
| ENST00000550113.2:n.597_598delinsCA | ||
| ENST00000682117.1:c.2007_2008delinsCA | ENSP00000507328.1:p.Ala670Thr | |
| ENST00000682212.1:c.2042_2043delinsCA | ENSP00000508217.1:p.Met681Thr | |
| ENST00000682425.1:n.2296_2297delinsCA | ||
| ENST00000682502.1:n.2753_2754delinsCA | ||
| ENST00000682881.1:c.1903_1904delinsCA | ENSP00000506762.1:p.Cys635His | |
| ENST00000682964.1:n.2492_2493delinsCA | ||
| ENST00000683135.1:c.*368_*369delinsCA | ENSP00000507130.1:n.*368_*369delinsCA | |
| ENST00000683324.1:c.2043_2044delinsCA | ENSP00000507373.1:p.Ala682Thr | |
| ENST00000683355.1:c.*260_*261delinsCA | ENSP00000508045.1:n.*260_*261delinsCA | |
| ENST00000683475.1:c.*819_*820delinsCA | ENSP00000507749.1:n.*819_*820delinsCA | |
| ENST00000683529.1:n.1255_1256delinsCA | ||
| ENST00000683979.1:c.*5992_*5993delinsCA | ENSP00000507362.1:n.*5992_*5993delinsCA | |
| ENST00000683987.1:c.*88_*89delinsCA | ENSP00000507715.1:n.*88_*89delinsCA | |
| ENST00000684138.1:c.*1748_*1749delinsCA | ENSP00000506755.1:n.*1748_*1749delinsCA | |
| ENST00000684144.1:c.2040_2041delinsCA | ENSP00000508213.1:p.Ala681Thr | |
| ENST00000684229.1:n.2172_2173delinsCA | ||
| ENST00000684272.1:c.*1951_*1952delinsCA | ENSP00000506776.1:n.*1951_*1952delinsCA | |
| ENST00000684297.1:c.*927_*928delinsCA | ENSP00000507160.1:n.*927_*928delinsCA | |
| ENST00000684336.1:n.5196_5197delinsCA | ||
| ENST00000684366.1:c.*529_*530delinsCA | ENSP00000507668.1:n.*529_*530delinsCA | |
| ENST00000684645.1:n.6518_6519delinsCA | ||
| ENST00000684759.1:c.2039_2040delinsCA | ENSP00000507818.1:p.Met680Thr | |
| ENST00000371589.9:c.2046_2047delinsCA MANE Select | ENSP00000360645.4:p.Ala683Thr | |
| ENST00000371589.8:c.2046_2047delinsCA | ENSP00000360645.4:p.Ala683Thr | |
| ENST00000474902.5:n.1692_1693delinsCA | ||
| ENST00000475449.6:c.323_324delinsCA | ||
| ENST00000480100.3:n.2839_2840delinsCA | ||
| ENST00000535028.5:n.3242_3243delinsCA | ||
| ENST00000536349.5:n.4404_4405delinsCA | ||
| ENST00000540391.5:n.3296_3297delinsCA | ||
| ENST00000544448.5:c.*368_*369delinsCA | ENSP00000444966.2:n.*368_*369delinsCA | |
| ENST00000550113.1:c.319_320delinsCA | ||
| NM_016219.4:c.2046_2047delinsCA | NP_057303.2:p.Ala683Thr | |
| NR_045720.1:n.2094_2095delinsCA | ||
| NR_045721.1:n.2250_2251delinsCA | ||
| XM_006716945.4:c.*575_*576delinsCA | XP_006717008.1:n.*575_*576delinsCA | |
| XM_017014239.1:c.*575_*576delinsCA | XP_016869728.1:n.*575_*576delinsCA | |
| XM_024447403.1:c.2129_2130delinsCA | XP_024303171.1:p.Met710Thr | |
| XR_001746176.1:n.2211_2212delinsCA | ||
| NM_016219.5:c.2046_2047delinsCA MANE Select | NP_057303.2:p.Ala683Thr | |
| NR_045720.2:n.2036_2037delinsCA | ||
| NR_045721.2:n.2192_2193delinsCA |