Linked Data
gnomAD v4:
2-219060480-CGGGGG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219060481_219060485del , CM000664.2:g.219060481_219060485del | GRCh38 |
| NC_000002.11:g.219925203_219925207del , CM000664.1:g.219925203_219925207del | GRCh37 |
| NC_000002.10:g.219633447_219633451del | NCBI36 |
| NG_016741.1:g.5032_5036del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295731.7:c.-18_-14del MANE Select | ENSP00000295731.5:n.-18_-14del | |
| NM_002181.3:c.-18_-14del | NP_002172.2:n.-18_-14del | |
| NM_002181.4:c.-18_-14del MANE Select | NP_002172.2:n.-18_-14del |