Linked Data
dbSNP Id:
rs1466627354
gnomAD v2:
15-42681087-ACT-A
gnomAD v3:
15-42388889-ACT-A
gnomAD v4:
15-42388889-ACT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42388892_42388893del , CM000677.2:g.42388892_42388893del | GRCh38 |
| NC_000015.9:g.42681090_42681091del , CM000677.1:g.42681090_42681091del | GRCh37 |
| NC_000015.8:g.40468382_40468383del | NCBI36 |
| NG_008660.1:g.45790_45791del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349748.8:c.633-36_633-35del | ENSP00000183936.4:n.633-36_633-35del | |
| ENST00000357568.8:c.633-36_633-35del | ENSP00000350181.3:n.633-36_633-35del | |
| ENST00000397163.8:c.633-36_633-35del MANE Select | ENSP00000380349.3:n.633-36_633-35del | |
| ENST00000466369.5:n.1142-36_1142-35del | ||
| ENST00000483208.5:n.864-36_864-35del | ||
| ENST00000495723.1:n.864-36_864-35del | ||
| ENST00000549793.5:n.864-36_864-35del | ||
| ENST00000638141.2:n.648-36_648-35del | ||
| ENST00000673705.1:c.70+4340_70+4341del | ENSP00000501021.1:n.70+4340_70+4341del | |
| ENST00000318023.11:c.633-36_633-35del | ENSP00000326281.8:n.633-36_633-35del | |
| ENST00000349748.7:c.633-36_633-35del | ENSP00000183936.4:n.633-36_633-35del | |
| ENST00000357568.7:c.633-36_633-35del | ENSP00000350181.3:n.633-36_633-35del | |
| ENST00000397163.7:c.633-36_633-35del | ENSP00000380349.3:n.633-36_633-35del | |
| NM_000070.2:c.633-36_633-35del | NP_000061.1:n.633-36_633-35del | |
| NM_024344.1:c.633-36_633-35del | NP_077320.1:n.633-36_633-35del | |
| NM_173087.1:c.633-36_633-35del | NP_775110.1:n.633-36_633-35del | |
| NM_000070.3:c.633-36_633-35del MANE Select | NP_000061.1:n.633-36_633-35del | |
| NM_024344.2:c.633-36_633-35del | NP_077320.1:n.633-36_633-35del | |
| NM_173087.2:c.633-36_633-35del | NP_775110.1:n.633-36_633-35del |