Linked Data
dbSNP Id:
rs767544359
ExAC:
18:48573670 GTCT / G
gnomAD v2:
18-48573670-GTCT-G
gnomAD v4:
18-51047300-GTCT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51047302_51047304del , CM000680.2:g.51047302_51047304del | GRCh38 |
| NC_000018.9:g.48573672_48573674del , CM000680.1:g.48573672_48573674del | GRCh37 |
| NC_000018.8:g.46827670_46827672del | NCBI36 |
| NG_013013.2:g.84263_84265del , LRG_318:g.84263_84265del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588860.6:c.249+7_249+9del | ENSP00000465878.2:n.249+7_249+9del | |
| ENST00000589076.6:c.249+7_249+9del | ENSP00000466934.2:n.249+7_249+9del | |
| ENST00000589941.2:c.249+7_249+9del | ENSP00000465874.2:n.249+7_249+9del | |
| ENST00000590061.2:c.249+7_249+9del | ENSP00000464772.2:n.249+7_249+9del | |
| ENST00000593223.2:c.249+7_249+9del | ENSP00000466118.2:n.249+7_249+9del | |
| ENST00000611848.2:c.249+7_249+9del | ENSP00000478613.2:n.249+7_249+9del | |
| ENST00000342988.8:c.249+7_249+9del MANE Select | ENSP00000341551.3:n.249+7_249+9del | |
| ENST00000342988.7:c.249+7_249+9del | ENSP00000341551.3:n.249+7_249+9del | |
| ENST00000398417.6:c.249+7_249+9del | ENSP00000381452.1:n.249+7_249+9del | |
| ENST00000588745.5:c.249+7_249+9del | ENSP00000464901.1:n.249+7_249+9del | |
| ENST00000588860.5:c.249+7_249+9del | ENSP00000465878.1:n.249+7_249+9del | |
| ENST00000589076.5:c.249+7_249+9del | ENSP00000466934.1:n.249+7_249+9del | |
| ENST00000589706.1:n.117+7_117+9del | ||
| ENST00000589941.1:c.249+7_249+9del | ENSP00000465874.1:n.249+7_249+9del | |
| ENST00000590061.1:c.249+7_249+9del | ENSP00000464772.1:n.249+7_249+9del | |
| ENST00000590722.2:c.*272+7_*272+9del | ENSP00000465737.1:n.*272+7_*272+9del | |
| ENST00000591914.5:c.249+7_249+9del | ENSP00000466941.1:n.249+7_249+9del | |
| ENST00000592186.5:c.249+7_249+9del | ENSP00000468611.1:n.249+7_249+9del | |
| ENST00000592911.5:n.28-1384_28-1382del | ||
| NM_005359.5:c.249+7_249+9del , LRG_318t1:c.249+7_249+9del | NP_005350.1:n.249+7_249+9del | |
| NM_005359.6:c.249+7_249+9del MANE Select | NP_005350.1:n.249+7_249+9del |