Linked Data
gnomAD v4:
1-169541900-GTCT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169541905_169541907del , CM000663.2:g.169541905_169541907del | GRCh38 |
| NC_000001.10:g.169511143_169511145del , CM000663.1:g.169511143_169511145del | GRCh37 |
| NC_000001.9:g.167777767_167777769del | NCBI36 |
| NG_011806.1:g.49629_49631del , LRG_553:g.49629_49631del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367797.9:c.3187_3189del MANE Select | ENSP00000356771.3:p.Arg1063del | |
| ENST00000367796.3:c.3202_3204del | ENSP00000356770.3:p.Arg1068del | |
| ENST00000367797.7:c.3187_3189del | ENSP00000356771.3:p.Arg1063del | |
| NM_000130.4:c.3187_3189del , LRG_553t1:c.3187_3189del | NP_000121.2:p.Arg1063del | |
| XM_017000660.2:c.2776_2778del | XP_016856149.1:p.Arg926del | |
| NM_000130.5:c.3187_3189del MANE Select | NP_000121.2:p.Arg1063del |