Linked Data
dbSNP Id:
rs1809999456
gnomAD v3:
8-80037620-AGCTAGTAGTTCTTTCCTT-A
gnomAD v4:
8-80037620-AGCTAGTAGTTCTTTCCTT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.80037622_80037639del , CM000670.2:g.80037622_80037639del | GRCh38 |
| NC_000008.10:g.80949857_80949874del , CM000670.1:g.80949857_80949874del | GRCh37 |
| NC_000008.9:g.81112412_81112429del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000518937.6:c.*478_*495del MANE Select | ENSP00000429915.1:n.*478_*495del | |
| ENST00000379096.9:c.*478_*495del | ENSP00000368390.4:n.*478_*495del | |
| ENST00000379097.7:c.*478_*495del | ENSP00000368391.3:n.*478_*495del | |
| ENST00000448733.3:c.*478_*495del | ENSP00000410222.2:n.*478_*495del | |
| ENST00000517427.5:c.*478_*495del | ENSP00000429351.1:n.*478_*495del | |
| ENST00000517462.6:c.*836_*853del | ENSP00000429708.1:n.*836_*853del | |
| ENST00000518937.5:c.*478_*495del | ENSP00000429915.1:n.*478_*495del | |
| ENST00000519303.6:c.*478_*495del | ENSP00000428951.1:n.*478_*495del | |
| ENST00000520527.5:c.*478_*495del | ENSP00000429309.1:n.*478_*495del | |
| ENST00000522938.5:c.555+4982_555+4999del | ENSP00000430858.2:n.555+4982_555+4999del | |
| NM_001025252.2:c.*478_*495del | NP_001020423.1:n.*478_*495del | |
| NM_001025253.2:c.*478_*495del | NP_001020424.1:n.*478_*495del | |
| NM_001287140.1:c.*478_*495del | NP_001274069.1:n.*478_*495del | |
| NM_001287142.1:c.*478_*495del | NP_001274071.1:n.*478_*495del | |
| NM_001287143.1:c.*478_*495del | NP_001274072.1:n.*478_*495del | |
| NM_001287144.1:c.*588_*605del | NP_001274073.1:n.*588_*605del | |
| NM_005079.3:c.*478_*495del | NP_005070.1:n.*478_*495del | |
| NR_105033.1:n.1670_1687del | ||
| NR_105034.1:n.1133_1150del | ||
| NR_105035.1:n.1319_1336del | ||
| NR_105036.1:n.1263_1280del | ||
| NR_105037.1:n.1264_1281del | ||
| NM_001025252.3:c.*478_*495del | NP_001020423.1:n.*478_*495del | |
| NM_001025253.3:c.*478_*495del MANE Select | NP_001020424.1:n.*478_*495del | |
| NM_001287140.2:c.*478_*495del | NP_001274069.1:n.*478_*495del | |
| NM_001287143.2:c.*478_*495del | NP_001274072.1:n.*478_*495del | |
| NM_001287144.2:c.*588_*605del | NP_001274073.1:n.*588_*605del | |
| NM_005079.4:c.*478_*495del | NP_005070.1:n.*478_*495del | |
| NR_105033.2:n.1669_1686del | ||
| NR_105034.2:n.1038_1055del | ||
| NR_105035.2:n.1224_1241del | ||
| NR_105036.2:n.1184_1201del | ||
| NR_105037.2:n.1185_1202del | ||
| NM_001287142.2:c.*478_*495del | NP_001274071.1:n.*478_*495del | |
| NM_001387778.1:c.435+4982_435+4999del | NP_001374707.1:n.435+4982_435+4999del | |
| NM_001387779.1:c.436-3795_436-3778del | NP_001374708.1:n.436-3795_436-3778del | |
| NM_001387780.1:c.460-3795_460-3778del | NP_001374709.1:n.460-3795_460-3778del | |
| NR_170693.1:n.1173_1190del | ||
| NR_170694.1:n.1200_1217del |