Linked Data
dbSNP Id:
rs1479287480
gnomAD v2:
9-88699977-AAGACAGTT-A
gnomAD v3:
9-86085062-AAGACAGTT-A
gnomAD v4:
9-86085062-AAGACAGTT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.86085065_86085072del , CM000671.2:g.86085065_86085072del | GRCh38 |
| NC_000009.11:g.88699980_88699987del , CM000671.1:g.88699980_88699987del | GRCh37 |
| NC_000009.10:g.87889800_87889807del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000388711.7:c.-21-5729_-21-5722del | ENSP00000373363.3:n.-21-5729_-21-5722del | |
| ENST00000388712.7:c.-21-5729_-21-5722del MANE Select | ENSP00000373364.3:n.-21-5729_-21-5722del | |
| ENST00000466178.1:c.-141-31_-141-24del | ENSP00000418155.1:n.-141-31_-141-24del | |
| ENST00000472919.1:n.150-5729_150-5722del | ||
| NM_016548.3:c.-21-5729_-21-5722del | NP_057632.2:n.-21-5729_-21-5722del | |
| NM_177937.2:c.-21-5729_-21-5722del | NP_808800.1:n.-21-5729_-21-5722del | |
| NM_016548.4:c.-21-5729_-21-5722del MANE Select | NP_057632.2:n.-21-5729_-21-5722del | |
| NM_177937.3:c.-21-5729_-21-5722del | NP_808800.1:n.-21-5729_-21-5722del |