Linked Data
gnomAD v4:
1-94056557-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94056559del , CM000663.2:g.94056559del | GRCh38 |
| NC_000001.10:g.94522115del , CM000663.1:g.94522115del | GRCh37 |
| NC_000001.9:g.94294703del | NCBI36 |
| NG_009073.1:g.69592del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.2382+43del MANE Select | ENSP00000359245.3:n.2382+43del | |
| ENST00000649773.1:c.2161-1243del | ENSP00000496882.1:n.2161-1243del | |
| ENST00000370225.3:c.2382+43del | ENSP00000359245.3:n.2382+43del | |
| ENST00000536513.5:c.-65+6616del | ENSP00000439707.2:n.-65+6616del | |
| NM_000350.2:c.2382+43del | NP_000341.2:n.2382+43del | |
| NM_000350.3:c.2382+43del MANE Select | NP_000341.2:n.2382+43del |