Linked Data
dbSNP Id:
rs1673074622
gnomAD v2:
2-25457180-CG-C
gnomAD v3:
2-25234311-CG-C
gnomAD v4:
2-25234311-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.25234312del , CM000664.2:g.25234312del | GRCh38 |
| NC_000002.11:g.25457181del , CM000664.1:g.25457181del | GRCh37 |
| NC_000002.10:g.25310685del | NCBI36 |
| NG_029465.2:g.113279del , LRG_459:g.113279del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474887.6:c.955del | ||
| ENST00000683393.1:c.1852del | ENSP00000508654.1:n.1852del | |
| ENST00000683760.1:c.2037del | ENSP00000507765.1:p.Phe679LeufsTer4 | |
| ENST00000321117.10:c.2706del MANE Select | ENSP00000324375.5:p.Phe902LeufsTer4 | |
| ENST00000264709.7:c.2706del | ENSP00000264709.3:p.Phe902LeufsTer4 | |
| ENST00000321117.9:c.2706del | ENSP00000324375.5:p.Phe902LeufsTer4 | |
| ENST00000380746.8:c.2139del | ENSP00000370122.4:p.Phe713LeufsTer4 | |
| ENST00000380756.7:c.*559del | ENSP00000370132.3:n.*559del | |
| ENST00000402667.1:c.2037del | ENSP00000384237.1:p.Phe679LeufsTer4 | |
| NM_022552.4:c.2706del , LRG_459t1:c.2706del | NP_072046.2:p.Phe902LeufsTer4 | |
| NM_153759.3:c.2139del , LRG_459t2:c.2139del | NP_715640.2:p.Phe713LeufsTer4 | |
| NM_175629.2:c.2706del , LRG_459t4:c.2706del | NP_783328.1:p.Phe902LeufsTer4 | |
| XM_005264175.3:c.2706del | XP_005264232.1:p.Phe902LeufsTer4 | |
| XM_005264177.3:c.2037del | XP_005264234.1:p.Phe679LeufsTer4 | |
| XM_006711958.2:c.2262del | XP_006712021.1:p.Phe754LeufsTer4 | |
| XM_011532662.1:c.2559del | XP_011530964.1:p.Phe853LeufsTer4 | |
| XM_011532663.1:c.2541del | XP_011530965.1:p.Phe847LeufsTer4 | |
| XM_011532665.1:c.2250del | XP_011530967.1:p.Phe750LeufsTer4 | |
| XM_011532666.1:c.2178del | XP_011530968.1:p.Phe726LeufsTer4 | |
| XM_011532667.1:c.2037del | XP_011530969.1:p.Phe679LeufsTer4 | |
| NM_001320893.1:c.2250del | NP_001307822.1:p.Phe750LeufsTer4 | |
| NR_135490.1:n.3243del | ||
| XM_005264175.5:c.2706del | XP_005264232.1:p.Phe902LeufsTer4 | |
| XM_005264177.4:c.2037del | XP_005264234.1:p.Phe679LeufsTer4 | |
| XM_011532662.2:c.2559del | XP_011530964.1:p.Phe853LeufsTer4 | |
| XM_011532663.2:c.2541del | XP_011530965.1:p.Phe847LeufsTer4 | |
| XM_011532666.2:c.2178del | XP_011530968.1:p.Phe726LeufsTer4 | |
| XM_011532667.3:c.2037del | XP_011530969.1:p.Phe679LeufsTer4 | |
| XM_017003526.1:c.2706del | XP_016859015.1:p.Phe902LeufsTer4 | |
| XM_017003527.1:c.2037del | XP_016859016.1:p.Phe679LeufsTer4 | |
| XR_001738657.1:n.2913del | ||
| NM_001375819.1:c.2037del | NP_001362748.1:p.Phe679LeufsTer4 | |
| NR_135490.2:n.3136del | ||
| NM_022552.5:c.2706del MANE Select | NP_072046.2:p.Phe902LeufsTer4 |