Linked Data
gnomAD v4:
7-141973213-AAC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.141973217_141973218del , CM000669.2:g.141973217_141973218del | GRCh38 |
| NC_000007.13:g.141673017_141673018del , CM000669.1:g.141673017_141673018del | GRCh37 |
| NC_000007.12:g.141319486_141319487del | NCBI36 |
| NG_016141.1:g.5559_5560del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465654.5:c.-3+27220_-3+27221del (MGAM) | ENSP00000419372.1:n.-3+27220_-3+27221del | |
| ENST00000547270.1:c.475_476del (TAS2R38) MANE Select | ENSP00000448219.1:p.Val159LeufsTer5 | |
| NM_176817.4:c.475_476del (TAS2R38) | NP_789787.4:p.Val159LeufsTer5 | |
| XM_011515783.1:c.*25-13179_*25-13178del (OR9A4) | XP_011514085.1:n.*25-13179_*25-13178del | |
| NM_176817.5:c.475_476del (TAS2R38) MANE Select | NP_789787.5:p.Val159LeufsTer5 |