Linked Data
ClinVar Variation Id:
404156
dbSNP Id:
rs780264945
ExAC:
10:89717718 CTG / C
gnomAD v2:
10-89717718-CTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87957968_87957969del , CM000672.2:g.87957968_87957969del | GRCh38 |
| NC_000010.10:g.89717725_89717726del , CM000672.1:g.89717725_89717726del | GRCh37 |
| NC_000010.9:g.89707705_89707706del | NCBI36 |
| NG_007466.2:g.99530_99531del , LRG_311:g.99530_99531del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.750_751del | ENSP00000514759.2:p.Cys250TrpfsTer2 | |
| ENST00000710265.1:c.750_751del | ENSP00000518161.1:p.Cys250TrpfsTer2 | |
| ENST00000472832.3:c.750_751del | ENSP00000483066.2:p.Cys250TrpfsTer2 | |
| ENST00000688158.2:n.1485_1486del | ||
| ENST00000688922.2:c.*580_*581del | ENSP00000508742.2:n.*580_*581del | |
| ENST00000700021.1:c.705_706del | ENSP00000514757.1:p.Cys235TrpfsTer2 | |
| ENST00000700022.1:c.*89_*90del | ENSP00000514758.1:n.*89_*90del | |
| ENST00000700023.1:n.1908_1909del | ||
| ENST00000700024.1:n.2142_2143del | ||
| ENST00000700025.1:n.1519_1520del | ||
| ENST00000700026.1:n.387_388del | ||
| ENST00000700029.1:c.584_585del | ||
| ENST00000706954.1:c.750_751del | ENSP00000516674.1:p.Cys250TrpfsTer2 | |
| ENST00000706955.1:c.*785_*786del | ENSP00000516675.1:n.*785_*786del | |
| ENST00000686459.1:c.*336_*337del | ENSP00000508909.1:n.*336_*337del | |
| ENST00000688158.1:c.*861_*862del | ENSP00000509254.1:n.*861_*862del | |
| ENST00000688308.1:c.750_751del | ENSP00000508752.1:p.Cys250TrpfsTer2 | |
| ENST00000688922.1:c.671_672del | ||
| ENST00000693560.1:c.1269_1270del | ENSP00000509861.1:p.Cys423TrpfsTer2 | |
| ENST00000371953.8:c.750_751del MANE Select | ENSP00000361021.3:p.Cys250TrpfsTer2 | |
| ENST00000371953.7:c.750_751del | ENSP00000361021.3:p.Cys250TrpfsTer2 | |
| ENST00000472832.2:c.177_178del | ENSP00000483066.1:p.Cys59TrpfsTer2 | |
| NM_000314.5:c.750_751del | NP_000305.3:p.Cys250TrpfsTer2 | |
| NM_000314.6:c.750_751del | NP_000305.3:p.Cys250TrpfsTer2 | |
| NM_001304717.2:c.1269_1270del | NP_001291646.2:p.Cys423TrpfsTer2 | |
| NM_001304718.1:c.159_160del | NP_001291647.1:p.Cys53TrpfsTer2 | |
| XM_006717926.2:c.705_706del | XP_006717989.1:p.Cys235TrpfsTer2 | |
| XM_011539981.1:c.750_751del | XP_011538283.1:p.Cys250TrpfsTer2 | |
| XM_011539982.1:c.654_655del | XP_011538284.1:p.Cys218TrpfsTer2 | |
| XR_945791.1:n.1320_1321del | ||
| NM_000314.7:c.750_751del | NP_000305.3:p.Cys250TrpfsTer2 | |
| NM_001304717.5:c.1269_1270del | NP_001291646.4:p.Cys423TrpfsTer2 | |
| NM_001304718.2:c.159_160del | NP_001291647.1:p.Cys53TrpfsTer2 | |
| NM_000314.8:c.750_751del MANE Select | NP_000305.3:p.Cys250TrpfsTer2 |