Linked Data
ClinVar Variation Id:
505395
dbSNP Id:
rs765741202
gnomAD v2:
15-78401613-GGGGAGCCGAC-G
gnomAD v3:
15-78109271-GGGGAGCCGAC-G
gnomAD v4:
15-78109271-GGGGAGCCGAC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.78109272_78109281del , CM000677.2:g.78109272_78109281del | GRCh38 |
| NC_000015.9:g.78401614_78401623del , CM000677.1:g.78401614_78401623del | GRCh37 |
| NC_000015.8:g.76188669_76188678del | NCBI36 |
| NG_033006.1:g.27255_27264del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258930.8:c.300_309del MANE Select | ENSP00000258930.3:p.Glu100AspfsTer28 | |
| ENST00000643268.1:c.316_325del | ENSP00000494155.1:n.316_325del | |
| ENST00000258930.7:c.300_309del | ENSP00000258930.3:p.Glu100AspfsTer28 | |
| ENST00000539011.5:c.171_180del | ENSP00000442459.1:p.Glu57AspfsTer28 | |
| ENST00000557818.1:c.282_291del | ENSP00000453654.1:n.282_291del | |
| ENST00000557846.5:c.153_162del | ENSP00000453488.1:p.Glu51AspfsTer28 | |
| ENST00000557917.5:c.188_197del | ENSP00000453963.1:p.Ser63ThrfsTer13 | |
| ENST00000559645.1:c.315_324del | ENSP00000452980.1:p.Glu105AspfsTer28 | |
| ENST00000560618.5:c.171_180del | ENSP00000452752.1:p.Glu57AspfsTer28 | |
| ENST00000561190.5:c.300_309del | ENSP00000453256.1:p.Glu100AspfsTer? | |
| NM_001271888.1:c.171_180del | NP_001258817.1:p.Glu57AspfsTer28 | |
| NM_001271889.1:c.153_162del | NP_001258818.1:p.Glu51AspfsTer28 | |
| NM_001301224.1:c.315_324del | NP_001288153.1:p.Glu105AspfsTer28 | |
| NM_006383.3:c.300_309del | NP_006374.1:p.Glu100AspfsTer28 | |
| NR_125435.1:n.508_517del | ||
| XM_005254126.2:c.300_309del | XP_005254183.1:p.Glu100AspfsTer28 | |
| XM_006720374.2:c.171_180del | XP_006720437.1:p.Glu57AspfsTer28 | |
| XM_011521161.1:c.171_180del | XP_011519463.1:p.Glu57AspfsTer28 | |
| XM_005254126.3:c.300_309del | XP_005254183.1:p.Glu100AspfsTer28 | |
| XM_011521161.2:c.171_180del | XP_011519463.1:p.Glu57AspfsTer28 | |
| XR_001751051.1:n.1188_1197del | ||
| NM_001271888.2:c.171_180del | NP_001258817.1:p.Glu57AspfsTer28 | |
| NM_001271889.2:c.153_162del | NP_001258818.1:p.Glu51AspfsTer28 | |
| NM_001301224.2:c.315_324del | NP_001288153.1:p.Glu105AspfsTer28 | |
| NM_006383.4:c.300_309del MANE Select | NP_006374.1:p.Glu100AspfsTer28 | |
| NR_125435.2:n.508_517del |