Linked Data
gnomAD v4:
20-3083155-G-GC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3083160dup , CM000682.2:g.3083160dup | GRCh38 |
| NC_000020.10:g.3063806dup , CM000682.1:g.3063806dup | GRCh37 |
| NC_000020.9:g.3011806dup | NCBI36 |
| NG_008663.1:g.6569dup , LRG_715:g.6569dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380293.3:c.143dup MANE Select | ENSP00000369647.3:p.Lys49GlnfsTer23 | |
| NM_000490.4:c.143dup , LRG_715t1:c.143dup | NP_000481.2:p.Lys49GlnfsTer23 | |
| XM_011529267.1:c.143dup | XP_011527569.1:p.Lys49GlnfsTer23 | |
| XM_011529267.2:c.143dup | XP_011527569.1:p.Lys49GlnfsTer23 | |
| NM_000490.5:c.143dup MANE Select | NP_000481.2:p.Lys49GlnfsTer23 |