Linked Data
dbSNP Id:
rs1156331086
gnomAD v2:
17-8015353-AG-A
gnomAD v3:
17-8112035-AG-A
gnomAD v4:
17-8112035-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8112039del , CM000679.2:g.8112039del | GRCh38 |
| NC_000017.10:g.8015357del , CM000679.1:g.8015357del | GRCh37 |
| NC_000017.9:g.7956082del | NCBI36 |
| NG_015807.1:g.11881del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318227.4:c.784+57del | ENSP00000314879.4:n.784+57del | |
| ENST00000380149.6:c.784+57del | ENSP00000369494.2:n.784+57del | |
| ENST00000448843.7:c.784+57del MANE Select | ENSP00000400581.2:n.784+57del | |
| ENST00000318227.3:c.1180+57del | ENSP00000314879.3:n.1180+57del | |
| ENST00000380149.5:c.1252+57del | ENSP00000369494.1:n.1252+57del | |
| ENST00000448843.6:c.784+57del | ENSP00000400581.2:n.784+57del | |
| NM_001165960.1:c.1180+57del | NP_001159432.1:n.1180+57del | |
| NM_021628.2:c.784+57del | NP_067641.2:n.784+57del | |
| XM_017024921.2:c.784+57del | XP_016880410.1:n.784+57del | |
| XM_017024922.2:c.784+57del | XP_016880411.1:n.784+57del | |
| XM_017024923.2:c.784+57del | XP_016880412.1:n.784+57del | |
| XM_017024924.2:c.784+57del | XP_016880413.1:n.784+57del | |
| XM_017024925.2:c.784+57del | XP_016880414.1:n.784+57del | |
| XR_001752579.2:n.1057+57del | ||
| XR_001752580.2:n.1057+57del | ||
| NM_001369446.1:c.781+57del | NP_001356375.1:n.781+57del | |
| NM_021628.3:c.784+57del MANE Select | NP_067641.2:n.784+57del |