ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.103006076dup , CM000663.2:g.103006076dup | GRCh38 |
| NC_000001.10:g.103471632dup , CM000663.1:g.103471632dup | GRCh37 |
| NC_000001.9:g.103244220dup | NCBI36 |
| NG_008033.1:g.107424dup | |
| NG_008033.2:g.107424dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370096.9:c.1786dup MANE Select | ENSP00000359114.3:p.Ala596GlyfsTer8 | |
| ENST00000461720.6:c.1939dup | ENSP00000494909.1:p.Ala647GlyfsTer8 | |
| ENST00000644186.1:c.1786dup | ENSP00000493821.1:p.Ala596GlyfsTer8 | |
| ENST00000645458.1:c.1786dup | ENSP00000494179.1:p.Ala596GlyfsTer8 | |
| ENST00000647280.1:c.1786dup | ENSP00000494583.1:p.Ala596GlyfsTer8 | |
| ENST00000353414.8:c.1669dup | ENSP00000302551.6:p.Ala557GlyfsTer8 | |
| ENST00000358392.6:c.1822dup | ENSP00000351163.2:p.Ala608GlyfsTer8 | |
| ENST00000370096.7:c.1786dup | ENSP00000359114.3:p.Ala596GlyfsTer8 | |
| ENST00000461720.5:n.134dup | ||
| ENST00000512756.5:c.1438dup | ENSP00000426533.1:p.Ala480GlyfsTer8 | |
| ENST00000635193.1:c.1104dup | ||
| NM_001190709.1:c.1669dup | NP_001177638.1:p.Ala557GlyfsTer8 | |
| NM_001854.3:c.1786dup | NP_001845.3:p.Ala596GlyfsTer8 | |
| NM_080629.2:c.1822dup | NP_542196.2:p.Ala608GlyfsTer8 | |
| NM_080630.3:c.1438dup | NP_542197.3:p.Ala480GlyfsTer8 | |
| XM_011540719.1:c.1786dup | XP_011539021.1:p.Ala596GlyfsTer8 | |
| XM_011540720.1:c.19dup | XP_011539022.1:p.Ala7GlyfsTer8 | |
| XM_011540721.1:c.-643dup | XP_011539023.1:n.-643dup | |
| XR_946545.1:n.2184dup | ||
| NR_134980.1:n.2104dup | ||
| XM_017000334.1:c.1939dup | XP_016855823.1:p.Ala647GlyfsTer8 | |
| XM_017000335.1:c.1933dup | XP_016855824.1:p.Ala645GlyfsTer8 | |
| XM_017000336.1:c.1939dup | XP_016855825.1:p.Ala647GlyfsTer8 | |
| XM_017000337.1:c.337dup | XP_016855826.1:p.Ala113GlyfsTer8 | |
| NM_001854.4:c.1786dup MANE Select | NP_001845.3:p.Ala596GlyfsTer8 | |
| NM_080630.4:c.1438dup | NP_542197.3:p.Ala480GlyfsTer8 | |
| NR_134980.2:n.2130dup | ||
| NM_001190709.2:c.1669dup | NP_001177638.1:p.Ala557GlyfsTer8 | |
| NM_080629.3:c.1822dup | NP_542196.2:p.Ala608GlyfsTer8 |