Linked Data
ClinVar Variation Id:
189441
dbSNP Id:
rs587782304
MyVariant Identifiers:
chr10:g.89720836_89720839del (hg19)
chr10:g.89720833_89720836del (hg19)
chr10:g.87961079_87961082del (hg38)
chr10:g.87961076_87961079del (hg38)
ERepo:
CA000656/MONDO:0017623/003
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87961079_87961082del , CM000672.2:g.87961079_87961082del | GRCh38 |
| NC_000010.10:g.89720836_89720839del , CM000672.1:g.89720836_89720839del | GRCh37 |
| NC_000010.9:g.89710816_89710819del | NCBI36 |
| NG_007466.2:g.102641_102644del , LRG_311:g.102641_102644del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.1080_1083del | ENSP00000514759.2:p.Asn360LysfsTer14 | |
| ENST00000710265.1:c.987_990del | ENSP00000518161.1:p.Asn329LysfsTer17 | |
| ENST00000472832.3:c.987_990del | ENSP00000483066.2:p.Asn329LysfsTer? | |
| ENST00000688158.2:n.1722_1725del | ||
| ENST00000688922.2:c.*817_*820del | ENSP00000508742.2:n.*817_*820del | |
| ENST00000700021.1:c.942_945del | ENSP00000514757.1:p.Asn314LysfsTer14 | |
| ENST00000700022.1:c.*326_*329del | ENSP00000514758.1:n.*326_*329del | |
| ENST00000700023.1:n.2145_2148del | ||
| ENST00000700024.1:n.2379_2382del | ||
| ENST00000700025.1:n.1756_1759del | ||
| ENST00000700026.1:n.624_627del | ||
| ENST00000706954.1:c.987_990del | ENSP00000516674.1:p.Asn329LysfsTer14 | |
| ENST00000706955.1:c.*1022_*1025del | ENSP00000516675.1:n.*1022_*1025del | |
| ENST00000686459.1:c.*573_*576del | ENSP00000508909.1:n.*573_*576del | |
| ENST00000688158.1:c.*1098_*1101del | ENSP00000509254.1:n.*1098_*1101del | |
| ENST00000688308.1:c.987_990del | ENSP00000508752.1:p.Asn329LysfsTer14 | |
| ENST00000688922.1:c.908_911del | ||
| ENST00000693560.1:c.1506_1509del | ENSP00000509861.1:p.Asn502LysfsTer14 | |
| ENST00000371953.8:c.987_990del MANE Select | ENSP00000361021.3:p.Asn329LysfsTer14 | |
| ENST00000371953.7:c.987_990del | ENSP00000361021.3:p.Asn329LysfsTer14 | |
| ENST00000472832.2:c.414_417del | ENSP00000483066.1:p.Asn138LysfsTer? | |
| NM_000314.5:c.987_990del | NP_000305.3:p.Asn329LysfsTer14 | |
| NM_000314.6:c.987_990del | NP_000305.3:p.Asn329LysfsTer14 | |
| NM_001304717.2:c.1506_1509del | NP_001291646.2:p.Asn502LysfsTer14 | |
| NM_001304718.1:c.396_399del | NP_001291647.1:p.Asn132LysfsTer14 | |
| XM_006717926.2:c.942_945del | XP_006717989.1:p.Asn314LysfsTer14 | |
| XM_011539981.1:c.987_990del | XP_011538283.1:p.Asn329LysfsTer17 | |
| XM_011539982.1:c.891_894del | XP_011538284.1:p.Asn297LysfsTer14 | |
| XR_945791.1:n.1557_1560del | ||
| NM_000314.7:c.987_990del | NP_000305.3:p.Asn329LysfsTer14 | |
| NM_001304717.5:c.1506_1509del | NP_001291646.4:p.Asn502LysfsTer14 | |
| NM_001304718.2:c.396_399del | NP_001291647.1:p.Asn132LysfsTer14 | |
| NM_000314.8:c.987_990del MANE Select | NP_000305.3:p.Asn329LysfsTer14 |