Linked Data
ClinVar Variation Id:
127687
dbSNP Id:
rs587780003
gnomAD v4:
10-87965309-CAGT-C
ERepo:
CA000271/MONDO:0017623/003
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87965312_87965314del , CM000672.2:g.87965312_87965314del | GRCh38 |
| NC_000010.10:g.89725069_89725071del , CM000672.1:g.89725069_89725071del | GRCh37 |
| NC_000010.9:g.89715049_89715051del | NCBI36 |
| NG_007466.2:g.106874_106876del , LRG_311:g.106874_106876del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.1145_1147del | ENSP00000514759.2:p.Val382del | |
| ENST00000710265.1:c.*81_*83del | ENSP00000518161.1:n.*81_*83del | |
| ENST00000688158.2:n.1787_1789del | ||
| ENST00000688922.2:c.*882_*884del | ENSP00000508742.2:n.*882_*884del | |
| ENST00000700021.1:c.1007_1009del | ENSP00000514757.1:p.Val336del | |
| ENST00000700022.1:c.*391_*393del | ENSP00000514758.1:n.*391_*393del | |
| ENST00000700023.1:n.2210_2212del | ||
| ENST00000700024.1:n.2444_2446del | ||
| ENST00000706954.1:c.1052_1054del | ENSP00000516674.1:p.Val351del | |
| ENST00000706955.1:c.*1087_*1089del | ENSP00000516675.1:n.*1087_*1089del | |
| ENST00000686459.1:c.*638_*640del | ENSP00000508909.1:n.*638_*640del | |
| ENST00000688158.1:c.*1163_*1165del | ENSP00000509254.1:n.*1163_*1165del | |
| ENST00000688308.1:c.1052_1054del | ENSP00000508752.1:p.Val351del | |
| ENST00000688922.1:c.973_975del | ||
| ENST00000693560.1:c.1571_1573del | ENSP00000509861.1:p.Val524del | |
| ENST00000371953.8:c.1052_1054del MANE Select | ENSP00000361021.3:p.Val351del | |
| ENST00000371953.7:c.1052_1054del | ENSP00000361021.3:p.Val351del | |
| NM_000314.5:c.1052_1054del | NP_000305.3:p.Val351del | |
| NM_000314.6:c.1052_1054del | NP_000305.3:p.Val351del | |
| NM_001304717.2:c.1571_1573del | NP_001291646.2:p.Val524del | |
| NM_001304718.1:c.461_463del | NP_001291647.1:p.Val154del | |
| XM_006717926.2:c.1007_1009del | XP_006717989.1:p.Val336del | |
| XM_011539982.1:c.956_958del | XP_011538284.1:p.Val319del | |
| XR_945791.1:n.1622_1624del | ||
| NM_000314.7:c.1052_1054del | NP_000305.3:p.Val351del | |
| NM_001304717.5:c.1571_1573del | NP_001291646.4:p.Val524del | |
| NM_001304718.2:c.461_463del | NP_001291647.1:p.Val154del | |
| NM_000314.8:c.1052_1054del MANE Select | NP_000305.3:p.Val351del |