ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214792358_214792365dup , CM000664.2:g.214792358_214792365dup | GRCh38 |
| NC_000002.11:g.215657082_215657089dup , CM000664.1:g.215657082_215657089dup | GRCh37 |
| NC_000002.10:g.215365327_215365334dup | NCBI36 |
| NG_012047.2:g.22344_22351dup | |
| NG_012047.3:g.22351_22358dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.300_307dup MANE Select | ENSP00000260947.4:p.Ser103AsnfsTer5 | |
| ENST00000421162.2:c.215+4700_215+4707dup | ENSP00000392245.2:n.215+4700_215+4707dup | |
| ENST00000613192.2:c.158+17051_158+17058dup | ENSP00000483275.2:n.158+17051_158+17058dup | |
| ENST00000613374.5:c.158+17051_158+17058dup | ENSP00000484464.1:n.158+17051_158+17058dup | |
| ENST00000613706.5:c.300_307dup | ENSP00000484976.2:p.Ser103AsnfsTer5 | |
| ENST00000617164.5:c.243_250dup | ENSP00000480470.1:p.Ser84AsnfsTer5 | |
| ENST00000619009.5:c.300_307dup | ENSP00000482293.1:p.Ser103AsnfsTer5 | |
| ENST00000650978.1:c.142_149dup | ||
| ENST00000260947.8:c.300_307dup | ENSP00000260947.4:p.Ser103AsnfsTer5 | |
| ENST00000421162.1:c.215+4700_215+4707dup | ENSP00000392245.1:n.215+4700_215+4707dup | |
| ENST00000455743.5:c.215+4700_215+4707dup | ENSP00000412186.1:n.215+4700_215+4707dup | |
| ENST00000471787.1:n.260-10852_260-10845dup | ||
| ENST00000613192.1:c.73+17051_73+17058dup | ENSP00000483275.1:n.73+17051_73+17058dup | |
| ENST00000613374.4:c.158+17051_158+17058dup | ENSP00000484464.1:n.158+17051_158+17058dup | |
| ENST00000613706.4:c.215+4700_215+4707dup | ENSP00000484976.1:n.215+4700_215+4707dup | |
| ENST00000617164.4:c.243_250dup | ENSP00000480470.1:p.Ser84AsnfsTer5 | |
| ENST00000619009.4:c.300_307dup | ENSP00000482293.1:p.Ser103AsnfsTer5 | |
| ENST00000620057.4:c.300_307dup | ENSP00000481988.1:p.Ser103AsnfsTer5 | |
| NM_000465.3:c.300_307dup | NP_000456.2:p.Ser103AsnfsTer5 | |
| NM_001282543.1:c.243_250dup | NP_001269472.1:p.Ser84AsnfsTer5 | |
| NM_001282545.1:c.215+4700_215+4707dup | NP_001269474.1:n.215+4700_215+4707dup | |
| NM_001282548.1:c.158+17051_158+17058dup | NP_001269477.1:n.158+17051_158+17058dup | |
| NM_001282549.1:c.300_307dup | NP_001269478.1:p.Ser103AsnfsTer5 | |
| NR_104212.1:n.357+4700_357+4707dup | ||
| NR_104215.1:n.301-10852_301-10845dup | ||
| NR_104216.1:n.442_449dup | ||
| XM_011511567.1:c.246_253dup | XP_011509869.1:p.Ser85AsnfsTer5 | |
| XM_011511568.1:c.300_307dup | XP_011509870.1:p.Ser103AsnfsTer5 | |
| XM_017004613.1:c.399_406dup | XP_016860102.1:p.Ser136AsnfsTer5 | |
| XM_017004614.1:c.399_406dup | XP_016860103.1:p.Ser136AsnfsTer5 | |
| XR_002959322.1:n.490_497dup | ||
| NM_000465.4:c.300_307dup MANE Select | NP_000456.2:p.Ser103AsnfsTer5 | |
| NM_001282543.2:c.243_250dup | NP_001269472.1:p.Ser84AsnfsTer5 | |
| NM_001282545.2:c.215+4700_215+4707dup | NP_001269474.1:n.215+4700_215+4707dup | |
| NM_001282548.2:c.158+17051_158+17058dup | NP_001269477.1:n.158+17051_158+17058dup | |
| NM_001282549.2:c.300_307dup | NP_001269478.1:p.Ser103AsnfsTer5 | |
| NR_104212.2:n.329+4700_329+4707dup | ||
| NR_104215.2:n.273-10852_273-10845dup | ||
| NR_104216.2:n.414_421dup |