Linked Data
dbSNP Id:
rs1455342287
gnomAD v2:
1-115220404-TTCTTTCCCTCTCTCCC-T
gnomAD v3:
1-114677783-TTCTTTCCCTCTCTCCC-T
gnomAD v4:
1-114677783-TTCTTTCCCTCTCTCCC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114677786_114677801del , CM000663.2:g.114677786_114677801del | GRCh38 |
| NC_000001.10:g.115220407_115220422del , CM000663.1:g.115220407_115220422del | GRCh37 |
| NC_000001.9:g.115021930_115021945del | NCBI36 |
| NG_008012.1:g.22757_22772del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369538.4:c.1212+111_1212+126del | ENSP00000358551.4:n.1212+111_1212+126del | |
| ENST00000520113.7:c.1224+111_1224+126del MANE Select | ENSP00000430075.3:n.1224+111_1224+126del | |
| ENST00000637080.1:c.1007+111_1007+126del | ENSP00000489753.1:n.1007+111_1007+126del | |
| ENST00000639077.1:n.889+111_889+126del | ||
| ENST00000369538.3:c.1311+111_1311+126del | ENSP00000358551.3:n.1311+111_1311+126del | |
| ENST00000520113.6:c.1323+111_1323+126del | ENSP00000430075.2:n.1323+111_1323+126del | |
| NM_000036.2:c.1323+111_1323+126del | NP_000027.2:n.1323+111_1323+126del | |
| NM_001172626.1:c.1311+111_1311+126del | NP_001166097.1:n.1311+111_1311+126del | |
| NM_000036.3:c.1224+111_1224+126del MANE Select | NP_000027.3:n.1224+111_1224+126del | |
| NM_001172626.2:c.1212+111_1212+126del | NP_001166097.2:n.1212+111_1212+126del |