gnomAD v4:
Joint Max Group AF
0.00001327 (AMR)
Exomes Max Group AF
0.0000178 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.141973319_141973353dup , CM000669.2:g.141973319_141973353dup | GRCh38 |
| NC_000007.13:g.141673119_141673153dup , CM000669.1:g.141673119_141673153dup | GRCh37 |
| NC_000007.12:g.141319588_141319622dup | NCBI36 |
| NG_016141.1:g.5424_5458dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465654.5:c.-3+27322_-3+27356dup (MGAM) | ENSP00000419372.1:n.-3+27322_-3+27356dup | |
| ENST00000547270.1:c.340_374dup (TAS2R38) MANE Select | ENSP00000448219.1:p.His126AlafsTer16 | |
| NM_176817.4:c.340_374dup (TAS2R38) | NP_789787.4:p.His126AlafsTer16 | |
| XM_011515783.1:c.*25-13077_*25-13043dup (OR9A4) | XP_011514085.1:n.*25-13077_*25-13043dup | |
| NM_176817.5:c.340_374dup (TAS2R38) MANE Select | NP_789787.5:p.His126AlafsTer16 |