Linked Data
gnomAD v4:
2-219060407-CCAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219060416_219060418del , CM000664.2:g.219060416_219060418del | GRCh38 |
| NC_000002.11:g.219925138_219925140del , CM000664.1:g.219925138_219925140del | GRCh37 |
| NC_000002.10:g.219633382_219633384del | NCBI36 |
| NG_016741.1:g.5107_5109del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295731.7:c.58_60del MANE Select | ENSP00000295731.5:p.Leu20del | |
| ENST00000295731.6:c.58_60del | ENSP00000295731.5:p.Leu20del | |
| NM_002181.3:c.58_60del | NP_002172.2:p.Leu20del | |
| NM_002181.4:c.58_60del MANE Select | NP_002172.2:p.Leu20del |