ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24240623dup , CM000676.2:g.24240623dup | GRCh38 |
| NC_000014.8:g.24709829dup , CM000676.1:g.24709829dup | GRCh37 |
| NC_000014.7:g.23779669dup | NCBI36 |
| NG_016650.1:g.7052dup | |
| NG_054634.1:g.13207dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557915.2:n.1160dup | ||
| ENST00000557921.3:c.749dup | ENSP00000453157.3:p.Met250IlefsTer6 | |
| ENST00000699682.1:n.1247dup | ||
| ENST00000699683.1:n.1297dup | ||
| ENST00000699684.1:c.*450dup | ENSP00000514523.1:n.*450dup | |
| ENST00000699685.1:n.1061dup | ||
| ENST00000699686.1:c.650dup | ENSP00000514524.1:p.Met217IlefsTer6 | |
| ENST00000699687.1:c.752dup | ENSP00000514525.1:p.Met251IlefsTer6 | |
| ENST00000699688.1:n.1057dup | ||
| ENST00000699689.1:n.1413dup | ||
| ENST00000699690.1:n.1610dup | ||
| ENST00000699691.1:n.1754dup | ||
| ENST00000699693.1:n.1274dup | ||
| ENST00000699694.1:n.1516dup | ||
| ENST00000699695.1:c.*229dup | ENSP00000514526.1:n.*229dup | |
| ENST00000699696.1:n.1160dup | ||
| ENST00000699697.1:c.857dup | ENSP00000514527.1:p.Met286IlefsTer6 | |
| ENST00000699698.1:n.778dup | ||
| ENST00000699699.1:n.1181dup | ||
| ENST00000699700.1:n.1304dup | ||
| ENST00000699701.1:c.*237dup | ENSP00000514528.1:n.*237dup | |
| ENST00000267415.12:c.857dup MANE Select | ENSP00000267415.7:p.Met286IlefsTer6 | |
| ENST00000557921.2:c.749dup | ENSP00000453157.2:p.Met250IlefsTer6 | |
| ENST00000646753.1:c.752dup | ENSP00000494065.1:p.Met251IlefsTer6 | |
| ENST00000267415.11:c.857dup | ENSP00000267415.7:p.Met286IlefsTer6 | |
| ENST00000399423.8:c.857dup | ENSP00000382350.4:p.Met286IlefsTer6 | |
| ENST00000558476.5:c.419dup | ENSP00000452724.1:p.Met140IlefsTer6 | |
| ENST00000558566.1:c.*229dup | ENSP00000453025.1:n.*229dup | |
| ENST00000559019.1:c.*229dup | ENSP00000453675.1:n.*229dup | |
| ENST00000559549.1:n.583dup | ||
| ENST00000559969.5:c.757+56dup | ||
| ENST00000626689.2:c.*229dup | ENSP00000486681.1:n.*229dup | |
| NM_001099274.1:c.857dup | NP_001092744.1:p.Met286IlefsTer6 | |
| NM_012461.2:c.857dup | NP_036593.2:p.Met286IlefsTer6 | |
| XM_005267528.2:c.857dup | XP_005267585.1:p.Met286IlefsTer6 | |
| XM_005267529.2:c.752dup | XP_005267586.1:p.Met251IlefsTer6 | |
| NM_001099274.2:c.857dup | NP_001092744.1:p.Met286IlefsTer6 | |
| NM_001363668.1:c.752dup | NP_001350597.1:p.Met251IlefsTer6 | |
| NM_012461.3:c.857dup | NP_036593.2:p.Met286IlefsTer6 | |
| XM_011536642.2:c.*237dup | XP_011534944.1:n.*237dup | |
| XM_017021216.2:c.215dup | XP_016876705.1:p.Met72IlefsTer6 | |
| XM_017021217.1:c.215dup | XP_016876706.1:p.Met72IlefsTer6 | |
| NM_001099274.3:c.857dup MANE Select | NP_001092744.1:p.Met286IlefsTer6 | |
| NM_001363668.2:c.752dup | NP_001350597.1:p.Met251IlefsTer6 |