Linked Data
gnomAD v4:
1-94062798-GCTCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94062804_94062807del , CM000663.2:g.94062804_94062807del | GRCh38 |
| NC_000001.10:g.94528360_94528363del , CM000663.1:g.94528360_94528363del | GRCh37 |
| NC_000001.9:g.94300948_94300951del | NCBI36 |
| NG_009073.1:g.63348_63351del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.1761-49_1761-46del MANE Select | ENSP00000359245.3:n.1761-49_1761-46del | |
| ENST00000649773.1:c.1761-49_1761-46del | ENSP00000496882.1:n.1761-49_1761-46del | |
| ENST00000370225.3:c.1761-49_1761-46del | ENSP00000359245.3:n.1761-49_1761-46del | |
| ENST00000536513.5:c.-65+372_-65+375del | ENSP00000439707.2:n.-65+372_-65+375del | |
| NM_000350.2:c.1761-49_1761-46del | NP_000341.2:n.1761-49_1761-46del | |
| NM_000350.3:c.1761-49_1761-46del MANE Select | NP_000341.2:n.1761-49_1761-46del |