Linked Data
gnomAD v4:
15-74749856-AAAAGTCCACCAGAGCCAT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74749857_74749874del , CM000677.2:g.74749857_74749874del | GRCh38 |
| NC_000015.9:g.75042198_75042215del , CM000677.1:g.75042198_75042215del | GRCh37 |
| NC_000015.8:g.72829251_72829268del | NCBI36 |
| NG_008431.1:g.32316_32333del | |
| NG_008431.2:g.32316_32333del | |
| NG_061543.1:g.6013_6030del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343932.5:c.119_136del MANE Select | ENSP00000342007.4:p.Lys40_Trp46delinsArg | |
| ENST00000343932.4:c.119_136del | ENSP00000342007.4:p.Lys40_Trp46delinsArg | |
| NM_000761.4:c.119_136del | NP_000752.2:p.Lys40_Trp46delinsArg | |
| NM_000761.5:c.119_136del MANE Select | NP_000752.2:p.Lys40_Trp46delinsArg |