Linked Data
ClinVar Variation Id:
41323
ClinVar RCV Id:
RCV000034224
dbSNP Id:
rs312262766
gnomAD v2:
15-44876466-GCA-G
gnomAD v4:
15-44584268-GCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44584271_44584272del , CM000677.2:g.44584271_44584272del | GRCh38 |
| NC_000015.9:g.44876469_44876470del , CM000677.1:g.44876469_44876470del | GRCh37 |
| NC_000015.8:g.42663761_42663762del | NCBI36 |
| NG_008885.1:g.84409_84410del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559511.6:c.5410_5411del | ENSP00000453246.2:p.Cys1804ProfsTer25 | |
| ENST00000561391.2:n.1638_1639del | ||
| ENST00000682065.1:c.5266_5267del | ENSP00000507025.1:p.Cys1756ProfsTer25 | |
| ENST00000682460.1:c.*1667_*1668del | ENSP00000508334.1:n.*1667_*1668del | |
| ENST00000682495.1:c.*1902_*1903del | ENSP00000507166.1:n.*1902_*1903del | |
| ENST00000682669.1:c.5209_5210del | ENSP00000507782.1:p.Cys1737ProfsTer25 | |
| ENST00000683186.1:c.*2173_*2174del | ENSP00000507268.1:n.*2173_*2174del | |
| ENST00000683496.1:c.5410_5411del | ENSP00000506968.1:p.Cys1804ProfsTer25 | |
| ENST00000683734.1:c.5410_5411del | ENSP00000508319.1:p.Cys1804ProfsTer25 | |
| ENST00000683753.1:n.4456_4457del | ||
| ENST00000684038.1:c.*1830_*1831del | ENSP00000507141.1:n.*1830_*1831del | |
| ENST00000684235.1:c.5410_5411del | ENSP00000508295.1:p.Cys1804ProfsTer25 | |
| ENST00000684676.1:c.5410_5411del | ENSP00000506948.1:p.Cys1804ProfsTer25 | |
| ENST00000261866.12:c.5410_5411del MANE Select | ENSP00000261866.7:p.Cys1804ProfsTer25 | |
| ENST00000261866.11:c.5410_5411del | ENSP00000261866.7:p.Cys1804ProfsTer25 | |
| ENST00000427534.6:c.5410_5411del | ENSP00000396110.2:p.Cys1804ProfsTer25 | |
| ENST00000535302.6:c.5410_5411del | ENSP00000445278.2:p.Cys1804ProfsTer25 | |
| ENST00000558319.5:c.5410_5411del | ENSP00000453599.1:p.Cys1804ProfsTer25 | |
| ENST00000558790.5:n.847_848del | ||
| ENST00000559511.5:c.258_259del | ||
| ENST00000559822.1:c.182_183del | ||
| NM_001160227.1:c.5410_5411del | NP_001153699.1:p.Cys1804ProfsTer25 | |
| NM_025137.3:c.5410_5411del | NP_079413.3:p.Cys1804ProfsTer25 | |
| XM_005254695.3:c.5152_5153del | XP_005254752.1:p.Cys1718ProfsTer25 | |
| XM_006720700.1:c.5266_5267del | XP_006720763.1:p.Cys1756ProfsTer25 | |
| XM_017022634.1:c.5410_5411del | XP_016878123.1:p.Cys1804ProfsTer25 | |
| XM_017022636.1:c.2287_2288del | XP_016878125.1:p.Cys763ProfsTer25 | |
| XR_931917.2:n.5464_5465del | ||
| NM_025137.4:c.5410_5411del MANE Select | NP_079413.3:p.Cys1804ProfsTer25 | |
| NM_001160227.2:c.5410_5411del | NP_001153699.1:p.Cys1804ProfsTer25 |