Linked Data
gnomAD v4:
11-124872461-GGTGCAGCGTGGGGATGCTGGGTACTAC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.124872465_124872491del , CM000673.2:g.124872465_124872491del | GRCh38 |
| NC_000011.9:g.124742361_124742387del , CM000673.1:g.124742361_124742387del | GRCh37 |
| NC_000011.8:g.124247571_124247597del | NCBI36 |
| NG_016214.1:g.12057_12083del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397801.6:c.1243_1269del MANE Select | ENSP00000380903.1:p.Gln415_Val423del | |
| ENST00000397801.5:c.1243_1269del | ENSP00000380903.1:p.Gln415_Val423del | |
| ENST00000538940.5:c.1177_1203del | ENSP00000441797.1:p.Gln393_Val401del | |
| NM_022370.3:c.1243_1269del | NP_071765.2:p.Gln415_Val423del | |
| XM_011542953.1:c.2215_2241del | XP_011541255.1:p.Gln739_Val747del | |
| XM_017018122.1:c.1177_1203del | XP_016873611.1:p.Gln393_Val401del | |
| NM_022370.4:c.1243_1269del MANE Select | NP_071765.2:p.Gln415_Val423del |