Linked Data
gnomAD v4:
12-48981785-TTCCTCCTACCTGGGGAC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.48981791_48981807del , CM000674.2:g.48981791_48981807del | GRCh38 |
| NC_000012.11:g.49375574_49375590del , CM000674.1:g.49375574_49375590del | GRCh37 |
| NC_000012.10:g.47661841_47661857del | NCBI36 |
| NG_033141.1:g.8339_8355del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293549.4:c.*151_*167del MANE Select | ENSP00000293549.3:n.*151_*167del | |
| NM_005430.3:c.*151_*167del | NP_005421.1:n.*151_*167del | |
| NM_005430.4:c.*151_*167del MANE Select | NP_005421.1:n.*151_*167del |