Linked Data
dbSNP Id:
rs1404347558
gnomAD v2:
10-95552827-AG-A
gnomAD v3:
10-93793070-AG-A
gnomAD v4:
10-93793070-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.93793071del , CM000672.2:g.93793071del | GRCh38 |
| NC_000010.10:g.95552828del , CM000672.1:g.95552828del | GRCh37 |
| NC_000010.9:g.95542818del | NCBI36 |
| NG_011832.1:g.40263del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371418.9:c.674-115del MANE Select | ENSP00000360472.4:n.674-115del | |
| ENST00000485458.3:n.4650-115del | ||
| ENST00000635953.1:c.674-115del | ENSP00000490058.1:n.674-115del | |
| ENST00000636155.1:c.674-115del | ENSP00000490355.1:n.674-115del | |
| ENST00000636232.1:c.*460-115del | ENSP00000490325.1:n.*460-115del | |
| ENST00000636754.1:c.*516-115del | ENSP00000489781.1:n.*516-115del | |
| ENST00000636946.1:c.*843-115del | ENSP00000490654.1:n.*843-115del | |
| ENST00000637037.1:c.*264-115del | ENSP00000490860.1:n.*264-115del | |
| ENST00000637347.1:n.535-115del | ||
| ENST00000637611.1:c.*230-115del | ENSP00000489682.1:n.*230-115del | |
| ENST00000637689.1:c.-698-115del | ENSP00000490496.1:n.-698-115del | |
| ENST00000637925.1:c.*269-115del | ENSP00000489763.1:n.*269-115del | |
| ENST00000638049.1:c.*432-115del | ENSP00000490597.1:n.*432-115del | |
| ENST00000676175.1:n.2413-115del | ||
| ENST00000371413.4:c.674-115del | ENSP00000360467.3:n.674-115del | |
| ENST00000371418.8:c.674-115del | ENSP00000360472.4:n.674-115del | |
| ENST00000626307.1:n.4589-115del | ||
| ENST00000626946.1:n.229del | ||
| ENST00000627420.2:c.*383-115del | ENSP00000487116.1:n.*383-115del | |
| ENST00000629035.2:c.602-115del | ENSP00000486908.1:n.602-115del | |
| ENST00000630047.2:c.530-115del | ENSP00000485917.1:n.530-115del | |
| ENST00000630412.1:n.462-115del | ||
| ENST00000630487.2:c.*464-115del | ENSP00000486859.1:n.*464-115del | |
| NM_001308275.1:c.674-115del | NP_001295204.1:n.674-115del | |
| NM_001308276.1:c.530-115del | NP_001295205.1:n.530-115del | |
| NM_005097.2:c.674-115del | NP_005088.1:n.674-115del | |
| NM_005097.3:c.674-115del | NP_005088.1:n.674-115del | |
| NR_131777.1:n.938-115del | ||
| XM_017016911.2:c.674-115del | XP_016872400.1:n.674-115del | |
| XM_017016912.2:c.530-115del | XP_016872401.1:n.530-115del | |
| NM_005097.4:c.674-115del MANE Select | NP_005088.1:n.674-115del | |
| NM_001308275.2:c.674-115del | NP_001295204.1:n.674-115del | |
| NM_001308276.2:c.530-115del | NP_001295205.1:n.530-115del | |
| NR_131777.2:n.811-115del |