HGVS | Genome Assembly |
---|---|
NC_000007.14:g.141973173_141973174del , CM000669.2:g.141973173_141973174del | GRCh38 |
NC_000007.13:g.141672973_141672974del , CM000669.1:g.141672973_141672974del | GRCh37 |
NC_000007.12:g.141319442_141319443del | NCBI36 |
NG_016141.1:g.5602_5603del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000465654.5:c.-3+27176_-3+27177del (MGAM) | ENSP00000419372.1:n.-3+27176_-3+27177del | |
ENST00000547270.1:c.518_519del (TAS2R38) MANE Select | ENSP00000448219.1:p.Val173AlafsTer5 | |
NM_176817.4:c.518_519del (TAS2R38) | NP_789787.4:p.Val173AlafsTer5 | |
XM_011515783.1:c.*25-13223_*25-13222del (OR9A4) | XP_011514085.1:n.*25-13223_*25-13222del | |
NM_176817.5:c.518_519del (TAS2R38) MANE Select | NP_789787.5:p.Val173AlafsTer5 |