Linked Data
dbSNP Id:
rs1676391108
gnomAD v3:
2-73641235-A-AGGTGGGAT
gnomAD v4:
2-73641235-A-AGGTGGGAT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73641236_73641243dup , CM000664.2:g.73641236_73641243dup | GRCh38 |
| NC_000002.11:g.73868363_73868370dup , CM000664.1:g.73868363_73868370dup | GRCh37 |
| NC_000002.10:g.73721871_73721878dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272425.4:c.386_393dup (NAT8) MANE Select | ENSP00000272425.3:p.Leu132IlefsTer4 | |
| ENST00000652439.1:n.154_161dup (ALMS1P1) | ||
| ENST00000272425.3:c.386_393dup (NAT8) | ENSP00000272425.3:p.Leu132IlefsTer4 | |
| NM_003960.3:c.386_393dup (NAT8) | NP_003951.3:p.Leu132IlefsTer4 | |
| NM_003960.4:c.386_393dup (NAT8) MANE Select | NP_003951.3:p.Leu132IlefsTer4 |