Linked Data
gnomAD v4:
15-73322637-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73322640_73322641del , CM000677.2:g.73322640_73322641del | GRCh38 |
| NC_000015.9:g.73614981_73614982del , CM000677.1:g.73614981_73614982del | GRCh37 |
| NC_000015.8:g.71402034_71402035del | NCBI36 |
| NG_009063.1:g.51626_51627del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.3454_3455del MANE Select | ENSP00000261917.3:p.Leu1152AlafsTer? | |
| ENST00000261917.3:c.3454_3455del | ENSP00000261917.3:p.Leu1152AlafsTer? | |
| NM_005477.2:c.3454_3455del | NP_005468.1:p.Leu1152AlafsTer? | |
| XM_011521148.1:c.2236_2237del | XP_011519450.1:p.Leu746AlafsTer? | |
| XM_011521148.2:c.2236_2237del | XP_011519450.1:p.Leu746AlafsTer? | |
| NM_005477.3:c.3454_3455del MANE Select | NP_005468.1:p.Leu1152AlafsTer? |