Linked Data
dbSNP Id:
rs1199354284
gnomAD v2:
15-78894799-CCAA-C
gnomAD v3:
15-78602457-CCAA-C
gnomAD v4:
15-78602457-CCAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.78602464_78602466del , CM000677.2:g.78602464_78602466del | GRCh38 |
| NC_000015.9:g.78894806_78894808del , CM000677.1:g.78894806_78894808del | GRCh37 |
| NC_000015.8:g.76681861_76681863del | NCBI36 |
| NG_016143.1:g.23836_23838del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000326828.6:c.378-196_378-194del MANE Select | ENSP00000315602.5:n.378-196_378-194del | |
| ENST00000326828.5:c.378-196_378-194del | ENSP00000315602.5:n.378-196_378-194del | |
| ENST00000348639.7:c.378-196_378-194del | ENSP00000267951.4:n.378-196_378-194del | |
| ENST00000558903.1:n.85-196_85-194del | ||
| ENST00000559658.5:c.378-196_378-194del | ENSP00000452896.1:n.378-196_378-194del | |
| NM_000743.4:c.378-196_378-194del | NP_000734.2:n.378-196_378-194del | |
| NM_001166694.1:c.378-196_378-194del | NP_001160166.1:n.378-196_378-194del | |
| NR_046313.1:n.879-196_879-194del | ||
| XM_006720382.1:c.177-196_177-194del | XP_006720445.1:n.177-196_177-194del | |
| XM_011521173.1:c.297-196_297-194del | XP_011519475.1:n.297-196_297-194del | |
| XM_006720382.3:c.177-196_177-194del | XP_006720445.1:n.177-196_177-194del | |
| NM_000743.5:c.378-196_378-194del MANE Select | NP_000734.2:n.378-196_378-194del | |
| NM_001166694.2:c.378-196_378-194del | NP_001160166.1:n.378-196_378-194del | |
| NR_046313.2:n.580-196_580-194del |