Linked Data
gnomAD v4:
10-94781921-TA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94781925del , CM000672.2:g.94781925del | GRCh38 |
| NC_000010.10:g.96541682del , CM000672.1:g.96541682del | GRCh37 |
| NC_000010.9:g.96531672del | NCBI36 |
| NG_008384.2:g.24220del | |
| NG_008384.3:g.24245del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.747del MANE Select | ENSP00000360372.3:p.Glu250AsnfsTer19 | |
| ENST00000645461.1:n.1800del | ||
| ENST00000371321.7:c.747del | ENSP00000360372.3:p.Glu250AsnfsTer19 | |
| ENST00000464755.1:c.1510del | ENSP00000483243.1:n.1510del | |
| NM_000769.2:c.747del | NP_000760.1:p.Glu250AsnfsTer19 | |
| NM_000769.4:c.747del MANE Select | NP_000760.1:p.Glu250AsnfsTer19 |