Linked Data
dbSNP Id:
rs1430106547
gnomAD v3:
16-20479747-ACAGACT-A
gnomAD v4:
16-20479747-ACAGACT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.20479752_20479757del , CM000678.2:g.20479752_20479757del | GRCh38 |
| NC_000016.9:g.20491074_20491079del , CM000678.1:g.20491074_20491079del | GRCh37 |
| NC_000016.8:g.20398575_20398580del | NCBI36 |
| NG_054721.1:g.33292_33297del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000573854.6:c.1282-821_1282-816del MANE Select | ENSP00000459451.1:n.1282-821_1282-816del | |
| ENST00000219054.10:c.1282-821_1282-816del | ENSP00000219054.6:n.1282-821_1282-816del | |
| ENST00000396104.2:c.1282-821_1282-816del | ENSP00000379411.2:n.1282-821_1282-816del | |
| ENST00000417235.6:c.1045-821_1045-816del | ENSP00000392169.2:n.1045-821_1045-816del | |
| ENST00000570698.5:n.1457-821_1457-816del | ||
| ENST00000572843.5:n.1477-821_1477-816del | ||
| ENST00000573854.5:c.1282-821_1282-816del | ENSP00000459451.1:n.1282-821_1282-816del | |
| ENST00000575558.5:n.1211-821_1211-816del | ||
| ENST00000575690.5:c.1282-821_1282-816del | ENSP00000460349.1:n.1282-821_1282-816del | |
| ENST00000576101.1:n.1034-821_1034-816del | ||
| NM_001010845.2:c.1282-821_1282-816del | NP_001010845.1:n.1282-821_1282-816del | |
| NM_001308169.1:c.1045-821_1045-816del | NP_001295098.1:n.1045-821_1045-816del | |
| NM_001308172.1:c.1282-821_1282-816del | NP_001295101.1:n.1282-821_1282-816del | |
| NM_001308954.1:c.1282-821_1282-816del | NP_001295883.1:n.1282-821_1282-816del | |
| XR_243259.2:n.2282-821_2282-816del | ||
| XM_017022923.1:c.1282-821_1282-816del | XP_016878412.1:n.1282-821_1282-816del | |
| XM_017022924.2:c.*678_*683del | XP_016878413.1:n.*678_*683del | |
| XM_017022925.1:c.1045-821_1045-816del | XP_016878414.1:n.1045-821_1045-816del | |
| XM_017022926.2:c.595-821_595-816del | XP_016878415.1:n.595-821_595-816del | |
| XR_001751834.2:n.2491-821_2491-816del | ||
| NM_001308172.2:c.1282-821_1282-816del MANE Select | NP_001295101.1:n.1282-821_1282-816del | |
| NM_001308169.2:c.1045-821_1045-816del | NP_001295098.1:n.1045-821_1045-816del | |
| NM_001308954.2:c.1282-821_1282-816del | NP_001295883.1:n.1282-821_1282-816del |