Linked Data
gnomAD v4:
1-17401347-ACT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17401348_17401349del , CM000663.2:g.17401348_17401349del | GRCh38 |
| NC_000001.10:g.17727844_17727845del , CM000663.1:g.17727844_17727845del | GRCh37 |
| NC_000001.9:g.17600431_17600432del | NCBI36 |
| NG_032943.1:g.34103_34104del | |
| NG_032943.2:g.34103_34104del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619609.1:c.1995_1996del MANE Select | ENSP00000483125.1:p.Asp665GlufsTer? | |
| NM_207421.4:c.1995_1996del MANE Select | NP_997304.3:p.Asp665GlufsTer? |