Linked Data
gnomAD v4:
10-94780378-TAAGGG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94780381_94780385del , CM000672.2:g.94780381_94780385del | GRCh38 |
| NC_000010.10:g.96540138_96540142del , CM000672.1:g.96540138_96540142del | GRCh37 |
| NC_000010.9:g.96530128_96530132del | NCBI36 |
| NG_008384.2:g.22676_22680del | |
| NG_008384.3:g.22701_22705del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371321.9:c.482-118_482-114del MANE Select | ENSP00000360372.3:n.482-118_482-114del | |
| ENST00000645461.1:n.1535-118_1535-114del | ||
| ENST00000371321.7:c.482-118_482-114del | ENSP00000360372.3:n.482-118_482-114del | |
| ENST00000464755.1:c.1245-118_1245-114del | ENSP00000483243.1:n.1245-118_1245-114del | |
| NM_000769.2:c.482-118_482-114del | NP_000760.1:n.482-118_482-114del | |
| NM_000769.4:c.482-118_482-114del MANE Select | NP_000760.1:n.482-118_482-114del |