Linked Data
gnomAD v4:
19-18787598-TTG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18787600_18787601del , CM000681.2:g.18787600_18787601del | GRCh38 |
| NC_000019.9:g.18898409_18898410del , CM000681.1:g.18898409_18898410del | GRCh37 |
| NC_000019.8:g.18759409_18759410del | NCBI36 |
| NG_007070.1:g.8706_8707del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1026_1027del MANE Select | ENSP00000222271.2:p.Asp342GlufsTer? | |
| ENST00000222271.6:c.1026_1027del | ENSP00000222271.2:p.Asp342GlufsTer? | |
| ENST00000425807.1:c.867_868del | ENSP00000403792.1:p.Asp289GlufsTer? | |
| ENST00000542601.6:c.927_928del | ENSP00000439156.2:p.Asp309GlufsTer? | |
| NM_000095.2:c.1026_1027del | NP_000086.2:p.Asp342GlufsTer? | |
| NM_000095.3:c.1026_1027del MANE Select | NP_000086.2:p.Asp342GlufsTer? |