Linked Data
gnomAD v4:
17-8003501-TGCCCCTGGACGCAGGCGGAGGGCACCACG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8003509_8003537del , CM000679.2:g.8003509_8003537del | GRCh38 |
| NC_000017.10:g.7906827_7906855del , CM000679.1:g.7906827_7906855del | GRCh37 |
| NC_000017.9:g.7847552_7847580del | NCBI36 |
| NG_009092.1:g.5840_5868del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254854.5:c.462_490del MANE Select | ENSP00000254854.4:p.Trp154CysfsTer? | |
| ENST00000254854.4:c.462_490del | ENSP00000254854.4:p.Trp154CysfsTer? | |
| NM_000180.3:c.462_490del | NP_000171.1:p.Trp154CysfsTer? | |
| XM_011523816.1:c.462_490del | XP_011522118.1:p.Trp154CysfsTer? | |
| NM_000180.4:c.462_490del MANE Select | NP_000171.1:p.Trp154CysfsTer? |