Linked Data
gnomAD v4:
1-94030579-T-TGCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94030580_94030582dup , CM000663.2:g.94030580_94030582dup | GRCh38 |
| NC_000001.10:g.94496136_94496138dup , CM000663.1:g.94496136_94496138dup | GRCh37 |
| NC_000001.9:g.94268724_94268726dup | NCBI36 |
| NG_009073.1:g.95568_95570dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.4254-56_4254-54dup MANE Select | ENSP00000359245.3:n.4254-56_4254-54dup | |
| ENST00000370225.3:c.4254-56_4254-54dup | ENSP00000359245.3:n.4254-56_4254-54dup | |
| ENST00000536513.5:c.630-56_630-54dup | ENSP00000439707.2:n.630-56_630-54dup | |
| NM_000350.2:c.4254-56_4254-54dup | NP_000341.2:n.4254-56_4254-54dup | |
| NM_000350.3:c.4254-56_4254-54dup MANE Select | NP_000341.2:n.4254-56_4254-54dup |