Linked Data
gnomAD v4:
1-114713847-TAC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114713851_114713852del , CM000663.2:g.114713851_114713852del | GRCh38 |
| NC_000001.10:g.115256472_115256473del , CM000663.1:g.115256472_115256473del | GRCh37 |
| NC_000001.9:g.115057995_115057996del | NCBI36 |
| NG_007572.1:g.8046_8047del , LRG_92:g.8046_8047del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369535.5:c.241_242del MANE Select | ENSP00000358548.4:p.Val81IlefsTer5 | |
| ENST00000369535.4:c.241_242del | ENSP00000358548.4:p.Val81IlefsTer5 | |
| NM_002524.4:c.241_242del | NP_002515.1:p.Val81IlefsTer5 | |
| NM_002524.5:c.241_242del MANE Select | NP_002515.1:p.Val81IlefsTer5 |