Linked Data
dbSNP Id:
rs1368721846
gnomAD v2:
1-47398666-GC-G
gnomAD v3:
1-46932994-GC-G
gnomAD v4:
1-46932994-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46932996del , CM000663.2:g.46932996del | GRCh38 |
| NC_000001.10:g.47398668del , CM000663.1:g.47398668del | GRCh37 |
| NC_000001.9:g.47171255del | NCBI36 |
| NG_007932.1:g.13490del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310638.9:c.1275del MANE Select | ENSP00000311095.4:p.Trp425CysfsTer? | |
| ENST00000310638.8:c.1275del | ENSP00000311095.4:p.Trp425CysfsTer? | |
| ENST00000371904.8:c.1278del | ENSP00000360971.4:p.Trp426CysfsTer? | |
| ENST00000371905.1:c.1275del | ENSP00000360972.1:p.Trp425CysfsTer? | |
| ENST00000462347.5:c.981del | ENSP00000477495.1:p.Trp327CysfsTer? | |
| ENST00000465874.5:c.*73del | ENSP00000476368.1:n.*73del | |
| ENST00000468629.5:c.1127-158del | ENSP00000476619.1:n.1127-158del | |
| ENST00000474458.5:c.743-158del | ENSP00000476988.1:n.743-158del | |
| ENST00000475477.5:c.*82-158del | ENSP00000476854.1:n.*82-158del | |
| NM_000778.3:c.1275del | NP_000769.2:p.Trp425CysfsTer? | |
| XM_005270539.1:c.981del | XP_005270596.1:p.Trp327CysfsTer? | |
| XM_011540826.1:c.1293del | XP_011539128.1:p.Trp431CysfsTer? | |
| XM_011540827.1:c.999del | XP_011539129.1:p.Trp333CysfsTer? | |
| XM_011540828.1:c.981del | XP_011539130.1:p.Trp327CysfsTer? | |
| XR_246241.1:n.1179del | ||
| XR_246242.1:n.1163del | ||
| NM_001319155.1:c.1179del | NP_001306084.1:p.Trp393CysfsTer? | |
| NM_001363587.1:c.981del | NP_001350516.1:p.Trp327CysfsTer? | |
| NR_134988.1:n.980del | ||
| NR_134989.1:n.1171del | ||
| NR_134990.1:n.1178-158del | ||
| NR_134991.1:n.1152del | ||
| NR_134992.1:n.794-158del | ||
| NR_134993.1:n.928-158del | ||
| NR_134994.1:n.1187del | ||
| XM_017000465.1:c.963del | XP_016855954.1:p.Trp321CysfsTer? | |
| XR_001737005.1:n.1266-158del | ||
| NM_000778.4:c.1275del MANE Select | NP_000769.2:p.Trp425CysfsTer? | |
| NM_001319155.2:c.1179del | NP_001306084.1:p.Trp393CysfsTer? | |
| NM_001363587.2:c.981del | NP_001350516.1:p.Trp327CysfsTer? | |
| NR_134988.2:n.972del | ||
| NR_134989.2:n.1163del | ||
| NR_134990.2:n.1170-158del | ||
| NR_134991.2:n.1144del | ||
| NR_134992.2:n.786-158del | ||
| NR_134993.2:n.920-158del | ||
| NR_134994.2:n.1179del |