Linked Data
dbSNP Id:
rs1207519251
gnomAD v2:
2-73868268-T-TGGAGG
gnomAD v3:
2-73641141-T-TGGAGG
gnomAD v4:
2-73641141-T-TGGAGG
MyVariant Identifiers:
chr2:g.73868268_73868269insGGAGG (hg19)
chr2:g.73641141_73641142insGGAGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73641142_73641146dup , CM000664.2:g.73641142_73641146dup | GRCh38 |
| NC_000002.11:g.73868269_73868273dup , CM000664.1:g.73868269_73868273dup | GRCh37 |
| NC_000002.10:g.73721777_73721781dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272425.4:c.483_487dup (NAT8) MANE Select | ENSP00000272425.3:p.Gln163ProfsTer? | |
| ENST00000652439.1:n.60_64dup (ALMS1P1) | ||
| ENST00000272425.3:c.483_487dup (NAT8) | ENSP00000272425.3:p.Gln163ProfsTer? | |
| NM_003960.3:c.483_487dup (NAT8) | NP_003951.3:p.Gln163ProfsTer? | |
| NM_003960.4:c.483_487dup (NAT8) MANE Select | NP_003951.3:p.Gln163ProfsTer? |