Linked Data
gnomAD v3:
X-141895718-T-TGGGGGAGGGGTGGAGGGGA
gnomAD v4:
X-141895718-T-TGGGGGAGGGGTGGAGGGGA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.141895738_141895756dup , CM000685.2:g.141895738_141895756dup | GRCh38 |
| NC_000023.10:g.140983524_140983542dup , CM000685.1:g.140983524_140983542dup | GRCh37 |
| NC_000023.9:g.140811190_140811208dup | NCBI36 |
| NG_013272.1:g.62423_62441dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298296.1:c.1123+179_1123+197dup MANE Select | ENSP00000298296.1:n.1123+179_1123+197dup | |
| ENST00000443323.2:c.-118-693_-118-675dup | ENSP00000438254.1:n.-118-693_-118-675dup | |
| ENST00000483584.5:n.288+331_288+349dup | ||
| ENST00000544766.5:c.-240+331_-240+349dup | ENSP00000440444.1:n.-240+331_-240+349dup | |
| NM_138702.1:c.1123+179_1123+197dup MANE Select | NP_619647.1:n.1123+179_1123+197dup | |
| NM_177456.2:c.-240+331_-240+349dup | NP_803251.1:n.-240+331_-240+349dup | |
| XM_011531267.1:c.-163+331_-163+349dup | XP_011529569.1:n.-163+331_-163+349dup | |
| XM_011531267.3:c.-163+331_-163+349dup | XP_011529569.1:n.-163+331_-163+349dup | |
| XM_017029265.2:c.-240+331_-240+349dup | XP_016884754.1:n.-240+331_-240+349dup |