Linked Data
gnomAD v4:
1-23868021-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23868022dup , CM000663.2:g.23868022dup | GRCh38 |
| NC_000001.10:g.24194512dup , CM000663.1:g.24194512dup | GRCh37 |
| NC_000001.9:g.24067099dup | NCBI36 |
| NG_013346.1:g.5348dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374479.4:c.265dup MANE Select | ENSP00000363603.3:p.Tyr89LeufsTer? | |
| ENST00000374479.3:c.265dup | ENSP00000363603.3:p.Tyr89LeufsTer? | |
| NM_000147.4:c.265dup | NP_000138.2:p.Tyr89LeufsTer? | |
| XM_005245821.1:c.-285dup | XP_005245878.1:n.-285dup | |
| XM_005245821.3:c.-285dup | XP_005245878.1:n.-285dup | |
| NM_000147.5:c.265dup MANE Select | NP_000138.2:p.Tyr89LeufsTer? | |
| NR_174379.1:n.269dup | ||
| NR_174380.1:n.269dup | ||
| NR_174381.1:n.269dup | ||
| NR_174382.1:n.269dup |