Linked Data
gnomAD v4:
X-50911156-G-GAGAGGAGTGT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50911161_50911170dup , CM000685.2:g.50911161_50911170dup | GRCh38 |
| NC_000023.10:g.50654161_50654170dup , CM000685.1:g.50654161_50654170dup | GRCh37 |
| NC_000023.9:g.50670901_50670910dup | NCBI36 |
| NG_012894.1:g.5378_5387dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252677.4:c.328+50_328+59dup MANE Select | ENSP00000252677.3:n.328+50_328+59dup | |
| ENST00000252677.3:c.328+50_328+59dup | ENSP00000252677.3:n.328+50_328+59dup | |
| NM_005448.2:c.328+50_328+59dup MANE Select | NP_005439.2:n.328+50_328+59dup |