Linked Data
ClinVar Variation Id:
41344
dbSNP Id:
rs312262779
gnomAD v2:
15-44862748-GC-G
gnomAD v4:
15-44570550-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44570552del , CM000677.2:g.44570552del | GRCh38 |
| NC_000015.9:g.44862750del , CM000677.1:g.44862750del | GRCh37 |
| NC_000015.8:g.42650042del | NCBI36 |
| NG_008885.1:g.98128del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000558138.2:c.250del | ENSP00000453314.2:p.Ala84ProfsTer9 | |
| ENST00000559511.6:c.5974del | ENSP00000453246.2:p.Ala1992ProfsTer22 | |
| ENST00000682065.1:c.6307del | ENSP00000507025.1:p.Ala2103ProfsTer22 | |
| ENST00000682460.1:c.*2708del | ENSP00000508334.1:n.*2708del | |
| ENST00000682495.1:c.*2943del | ENSP00000507166.1:n.*2943del | |
| ENST00000682669.1:c.6250del | ENSP00000507782.1:p.Ala2084ProfsTer22 | |
| ENST00000683186.1:c.*3214del | ENSP00000507268.1:n.*3214del | |
| ENST00000683496.1:c.*93del | ENSP00000506968.1:n.*93del | |
| ENST00000683734.1:c.*401del | ENSP00000508319.1:n.*401del | |
| ENST00000683753.1:n.5497del | ||
| ENST00000684038.1:c.*2871del | ENSP00000507141.1:n.*2871del | |
| ENST00000684235.1:c.6451del | ENSP00000508295.1:p.Ala2151ProfsTer22 | |
| ENST00000261866.12:c.6451del MANE Select | ENSP00000261866.7:p.Ala2151ProfsTer22 | |
| ENST00000261866.11:c.6451del | ENSP00000261866.7:p.Ala2151ProfsTer22 | |
| ENST00000427534.6:c.6451del | ENSP00000396110.2:p.Ala2151ProfsTer22 | |
| ENST00000535302.6:c.6112del | ENSP00000445278.2:p.Ala2038ProfsTer22 | |
| ENST00000558138.1:c.250del | ENSP00000453314.1:p.Ala84ProfsTer9 | |
| ENST00000559347.1:n.280del | ||
| ENST00000559511.5:c.822del | ||
| ENST00000561268.5:n.275+2132del | ||
| NM_001160227.1:c.6112del | NP_001153699.1:p.Ala2038ProfsTer22 | |
| NM_025137.3:c.6451del | NP_079413.3:p.Ala2151ProfsTer22 | |
| XM_005254695.3:c.6193del | XP_005254752.1:p.Ala2065ProfsTer22 | |
| XM_006720700.1:c.6307del | XP_006720763.1:p.Ala2103ProfsTer22 | |
| XM_017022634.1:c.6451del | XP_016878123.1:p.Ala2151ProfsTer9 | |
| XM_017022636.1:c.3328del | XP_016878125.1:p.Ala1110ProfsTer22 | |
| NM_025137.4:c.6451del MANE Select | NP_079413.3:p.Ala2151ProfsTer22 | |
| NM_001160227.2:c.6112del | NP_001153699.1:p.Ala2038ProfsTer22 |