Linked Data
gnomAD v4:
10-94781855-T-TC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94781858dup , CM000672.2:g.94781858dup | GRCh38 |
| NC_000010.10:g.96541615dup , CM000672.1:g.96541615dup | GRCh37 |
| NC_000010.9:g.96531605dup | NCBI36 |
| NG_008384.2:g.24153dup | |
| NG_008384.3:g.24178dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.680dup MANE Select | ENSP00000360372.3:p.Thr229AsnfsTer3 | |
| ENST00000645461.1:n.1733dup | ||
| ENST00000371321.7:c.680dup | ENSP00000360372.3:p.Thr229AsnfsTer3 | |
| ENST00000464755.1:c.1443dup | ENSP00000483243.1:n.1443dup | |
| NM_000769.2:c.680dup | NP_000760.1:p.Thr229AsnfsTer3 | |
| NM_000769.4:c.680dup MANE Select | NP_000760.1:p.Thr229AsnfsTer3 |