Linked Data
gnomAD v4:
20-33443552-GGCCCCCGAGCCC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.33443558_33443569del , CM000682.2:g.33443558_33443569del | GRCh38 |
| NC_000020.10:g.32031364_32031375del , CM000682.1:g.32031364_32031375del | GRCh37 |
| NC_000020.9:g.31495025_31495036del | NCBI36 |
| NG_011622.1:g.5329_5340del , LRG_332:g.5329_5340del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217381.3:c.57_68del MANE Select | ENSP00000217381.2:p.Gly20_Ala23del | |
| ENST00000217381.2:c.57_68del | ENSP00000217381.2:p.Gly20_Ala23del | |
| NM_003098.2:c.57_68del , LRG_332t1:c.57_68del | NP_003089.1:p.Gly20_Ala23del | |
| XM_005260517.1:c.57_68del | XP_005260574.1:p.Gly20_Ala23del | |
| XM_011529007.1:c.57_68del | XP_011527309.1:p.Gly20_Ala23del | |
| XM_011529008.1:c.57_68del | XP_011527310.1:p.Gly20_Ala23del | |
| XR_936612.1:n.290_301del | ||
| NM_003098.3:c.57_68del MANE Select | NP_003089.1:p.Gly20_Ala23del |