Linked Data
gnomAD v4:
1-229431539-T-TC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229431540dup , CM000663.2:g.229431540dup | GRCh38 |
| NC_000001.10:g.229567287dup , CM000663.1:g.229567287dup | GRCh37 |
| NC_000001.9:g.227633910dup | NCBI36 |
| NG_006672.1:g.7557dup , LRG_429:g.7557dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366683.4:c.1015dup | ENSP00000355644.4:p.Asp339GlyfsTer? | |
| ENST00000684723.1:c.958dup | ENSP00000508084.1:p.Asp320GlyfsTer? | |
| ENST00000366683.3:c.724dup | ENSP00000355644.3:p.Asp242GlyfsTer? | |
| ENST00000366684.7:c.1093dup MANE Select | ENSP00000355645.3:p.Asp365GlyfsTer? | |
| NM_001100.3:c.1093dup , LRG_429t1:c.1093dup | NP_001091.1:p.Asp365GlyfsTer? | |
| NM_001100.4:c.1093dup MANE Select | NP_001091.1:p.Asp365GlyfsTer? |