Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73641321_73641324del , CM000664.2:g.73641321_73641324del | GRCh38 |
| NC_000002.11:g.73868448_73868451del , CM000664.1:g.73868448_73868451del | GRCh37 |
| NC_000002.10:g.73721956_73721959del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272425.4:c.309_312del (NAT8) MANE Select | ENSP00000272425.3:p.Glu104ValfsTer18 | |
| ENST00000652439.1:n.239_242del (ALMS1P1) | ||
| ENST00000272425.3:c.309_312del (NAT8) | ENSP00000272425.3:p.Glu104ValfsTer18 | |
| NM_003960.3:c.309_312del (NAT8) | NP_003951.3:p.Glu104ValfsTer18 | |
| NM_003960.4:c.309_312del (NAT8) MANE Select | NP_003951.3:p.Glu104ValfsTer18 |