Linked Data
dbSNP Id:
rs755043888
ExAC:
2:215593443 A / AT
gnomAD v2:
2-215593443-A-AT
gnomAD v4:
2-214728719-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214728720dup , CM000664.2:g.214728720dup | GRCh38 |
| NC_000002.11:g.215593444dup , CM000664.1:g.215593444dup | GRCh37 |
| NC_000002.10:g.215301689dup | NCBI36 |
| NG_012047.2:g.85985dup | |
| NG_012047.3:g.85992dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.2290dup MANE Select | ENSP00000260947.4:p.Ile764AsnfsTer8 | |
| ENST00000421162.2:c.937dup | ENSP00000392245.2:p.Ile313AsnfsTer8 | |
| ENST00000613192.2:c.*353dup | ENSP00000483275.2:n.*353dup | |
| ENST00000613374.5:c.880dup | ENSP00000484464.1:p.Ile294AsnfsTer8 | |
| ENST00000613706.5:c.1882dup | ENSP00000484976.2:p.Ile628AsnfsTer8 | |
| ENST00000617164.5:c.2233dup | ENSP00000480470.1:p.Ile745AsnfsTer8 | |
| ENST00000619009.5:c.751dup | ENSP00000482293.1:p.Ile251AsnfsTer8 | |
| ENST00000650978.1:c.3665dup | ||
| ENST00000260947.8:c.2290dup | ENSP00000260947.4:p.Ile764AsnfsTer8 | |
| ENST00000432456.5:c.433dup | ||
| ENST00000455743.5:c.*1910dup | ENSP00000412186.1:n.*1910dup | |
| ENST00000471590.5:n.625dup | ||
| ENST00000613192.1:c.460dup | ENSP00000483275.1:p.Ile154AsnfsTer8 | |
| ENST00000613374.4:c.880dup | ENSP00000484464.1:p.Ile294AsnfsTer8 | |
| ENST00000613706.4:c.937dup | ENSP00000484976.1:p.Ile313AsnfsTer8 | |
| ENST00000617164.4:c.2233dup | ENSP00000480470.1:p.Ile745AsnfsTer8 | |
| ENST00000619009.4:c.751dup | ENSP00000482293.1:p.Ile251AsnfsTer8 | |
| ENST00000620057.4:c.*956dup | ENSP00000481988.1:n.*956dup | |
| NM_000465.3:c.2290dup | NP_000456.2:p.Ile764AsnfsTer8 | |
| NM_001282543.1:c.2233dup | NP_001269472.1:p.Ile745AsnfsTer8 | |
| NM_001282545.1:c.937dup | NP_001269474.1:p.Ile313AsnfsTer8 | |
| NM_001282548.1:c.880dup | NP_001269477.1:p.Ile294AsnfsTer8 | |
| NM_001282549.1:c.751dup | NP_001269478.1:p.Ile251AsnfsTer8 | |
| NR_104212.1:n.2283dup | ||
| NR_104215.1:n.2226dup | ||
| NR_104216.1:n.1482dup | ||
| XM_011511567.1:c.2236dup | XP_011509869.1:p.Ile746AsnfsTer8 | |
| XM_017004613.1:c.2389dup | XP_016860102.1:p.Ile797AsnfsTer8 | |
| XR_002959322.1:n.2656dup | ||
| NM_000465.4:c.2290dup MANE Select | NP_000456.2:p.Ile764AsnfsTer8 | |
| NM_001282543.2:c.2233dup | NP_001269472.1:p.Ile745AsnfsTer8 | |
| NM_001282545.2:c.937dup | NP_001269474.1:p.Ile313AsnfsTer8 | |
| NM_001282548.2:c.880dup | NP_001269477.1:p.Ile294AsnfsTer8 | |
| NM_001282549.2:c.751dup | NP_001269478.1:p.Ile251AsnfsTer8 | |
| NR_104212.2:n.2255dup | ||
| NR_104215.2:n.2198dup | ||
| NR_104216.2:n.1454dup |