Linked Data
dbSNP Id:
rs753000921
ExAC:
2:73868478 TC / T
gnomAD v2:
2-73868478-TC-T
gnomAD v4:
2-73641351-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73641352del , CM000664.2:g.73641352del | GRCh38 |
| NC_000002.11:g.73868479del , CM000664.1:g.73868479del | GRCh37 |
| NC_000002.10:g.73721987del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272425.4:c.277del (NAT8) MANE Select | ENSP00000272425.3:p.Asp93ThrfsTer10 | |
| ENST00000652439.1:n.243+27del (ALMS1P1) | ||
| ENST00000272425.3:c.277del (NAT8) | ENSP00000272425.3:p.Asp93ThrfsTer10 | |
| NM_003960.3:c.277del (NAT8) | NP_003951.3:p.Asp93ThrfsTer10 | |
| NM_003960.4:c.277del (NAT8) MANE Select | NP_003951.3:p.Asp93ThrfsTer10 |