Linked Data
dbSNP Id:
rs756978090
gnomAD v2:
20-23618436-TCACGGCCAGGGC-T
gnomAD v3:
20-23637799-TCACGGCCAGGGC-T
gnomAD v4:
20-23637799-TCACGGCCAGGGC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.23637810_23637821del , CM000682.2:g.23637810_23637821del | GRCh38 |
| NC_000020.10:g.23618447_23618458del , CM000682.1:g.23618447_23618458del | GRCh37 |
| NC_000020.9:g.23566447_23566458del | NCBI36 |
| NG_012887.2:g.5127_5138del | |
| NG_012887.3:g.5127_5138del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376925.8:c.52_63del MANE Select | ENSP00000366124.3:p.Ala18_Val21del | |
| ENST00000376925.7:c.52_63del | ENSP00000366124.3:p.Ala18_Val21del | |
| ENST00000398409.1:c.52_63del | ENSP00000381446.1:p.Ala18_Val21del | |
| ENST00000398411.5:c.52_63del | ENSP00000381448.1:p.Ala18_Val21del | |
| NM_000099.3:c.52_63del | NP_000090.1:p.Ala18_Val21del | |
| NM_001288614.1:c.52_63del | NP_001275543.1:p.Ala18_Val21del | |
| NM_000099.4:c.52_63del MANE Select | NP_000090.1:p.Ala18_Val21del | |
| NM_001288614.2:c.52_63del | NP_001275543.1:p.Ala18_Val21del |