Linked Data
gnomAD v4:
15-73322907-TGGTGGGGGGCTGGATGCA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73322913_73322930del , CM000677.2:g.73322913_73322930del | GRCh38 |
| NC_000015.9:g.73615254_73615271del , CM000677.1:g.73615254_73615271del | GRCh37 |
| NC_000015.8:g.71402307_71402324del | NCBI36 |
| NG_009063.1:g.51340_51357del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.3168_3185del MANE Select | ENSP00000261917.3:p.Ala1057_Pro1062del | |
| ENST00000261917.3:c.3168_3185del | ENSP00000261917.3:p.Ala1057_Pro1062del | |
| NM_005477.2:c.3168_3185del | NP_005468.1:p.Ala1057_Pro1062del | |
| XM_011521148.1:c.1950_1967del | XP_011519450.1:p.Ala651_Pro656del | |
| XM_011521148.2:c.1950_1967del | XP_011519450.1:p.Ala651_Pro656del | |
| NM_005477.3:c.3168_3185del MANE Select | NP_005468.1:p.Ala1057_Pro1062del |