Linked Data
dbSNP Id:
rs765256723
ExAC:
13:113772783 GTCA / G
gnomAD v2:
13-113772783-GTCA-G
gnomAD v4:
13-113118469-GTCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113118475_113118477del , CM000675.2:g.113118475_113118477del | GRCh38 |
| NC_000013.10:g.113772789_113772791del , CM000675.1:g.113772789_113772791del | GRCh37 |
| NC_000013.9:g.112820790_112820792del | NCBI36 |
| NG_009258.1:g.677_679del , LRG_548:g.677_679del | |
| NG_009262.1:g.17685_17687del , LRG_554:g.17685_17687del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346342.8:c.802_804del MANE Select | ENSP00000329546.4:p.Ile268del | |
| ENST00000346342.7:c.802_804del | ENSP00000329546.3:p.Ile268del | |
| ENST00000375581.3:c.868_870del | ENSP00000364731.3:p.Ile290del | |
| ENST00000541084.5:c.616_618del | ENSP00000442051.2:p.Ile206del | |
| NM_000131.4:c.868_870del , LRG_554t1:c.868_870del | NP_000122.1:p.Ile290del | |
| NM_001267554.1:c.616_618del | NP_001254483.1:p.Ile206del | |
| NM_019616.3:c.802_804del , LRG_554t2:c.802_804del | NP_062562.1:p.Ile268del | |
| NR_051961.1:n.889_891del | ||
| XM_006719963.2:c.661_663del | XP_006720026.1:p.Ile221del | |
| XM_011537474.1:c.910_912del | XP_011535776.1:p.Ile304del | |
| XM_011537475.1:c.724_726del | XP_011535777.1:p.Ile242del | |
| XM_011537476.1:c.562_564del | XP_011535778.1:p.Ile188del | |
| XM_011537477.1:c.871_873del | XP_011535779.1:p.Ile291del | |
| XM_006719963.3:c.706_708del | XP_006720026.2:p.Ile236del | |
| XM_011537474.2:c.955_957del | XP_011535776.2:p.Ile319del | |
| XM_011537475.2:c.769_771del | XP_011535777.2:p.Ile257del | |
| XM_011537476.2:c.562_564del | XP_011535778.1:p.Ile188del | |
| NM_019616.4:c.802_804del MANE Select | NP_062562.1:p.Ile268del | |
| NR_051961.2:n.886_888del | ||
| NM_001267554.2:c.616_618del | NP_001254483.1:p.Ile206del |