Linked Data
dbSNP Id:
rs1212875193
gnomAD v4:
10-87961194-CTGA-C
MyVariant Identifiers:
chr10:g.87961195_87961197del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87961198_87961200del , CM000672.2:g.87961198_87961200del | GRCh38 |
| NC_000010.10:g.89720955_89720957del , CM000672.1:g.89720955_89720957del | GRCh37 |
| NC_000010.9:g.89710935_89710937del | NCBI36 |
| NG_007466.2:g.102760_102762del , LRG_311:g.102760_102762del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.1119+80_1119+82del | ENSP00000514759.2:n.1119+80_1119+82del | |
| ENST00000710265.1:c.1026+80_1026+82del | ENSP00000518161.1:n.1026+80_1026+82del | |
| ENST00000472832.3:c.*71_*73del | ENSP00000483066.2:n.*71_*73del | |
| ENST00000688158.2:n.1761+80_1761+82del | ||
| ENST00000688922.2:c.*856+80_*856+82del | ENSP00000508742.2:n.*856+80_*856+82del | |
| ENST00000700021.1:c.981+80_981+82del | ENSP00000514757.1:n.981+80_981+82del | |
| ENST00000700022.1:c.*365+80_*365+82del | ENSP00000514758.1:n.*365+80_*365+82del | |
| ENST00000700023.1:n.2184+80_2184+82del | ||
| ENST00000700024.1:n.2418+80_2418+82del | ||
| ENST00000700025.1:n.1875_1877del | ||
| ENST00000700026.1:n.743_745del | ||
| ENST00000706954.1:c.1026+80_1026+82del | ENSP00000516674.1:n.1026+80_1026+82del | |
| ENST00000706955.1:c.*1061+80_*1061+82del | ENSP00000516675.1:n.*1061+80_*1061+82del | |
| ENST00000686459.1:c.*612+80_*612+82del | ENSP00000508909.1:n.*612+80_*612+82del | |
| ENST00000688158.1:c.*1137+80_*1137+82del | ENSP00000509254.1:n.*1137+80_*1137+82del | |
| ENST00000688308.1:c.1026+80_1026+82del | ENSP00000508752.1:n.1026+80_1026+82del | |
| ENST00000688922.1:c.947+80_947+82del | ||
| ENST00000693560.1:c.1545+80_1545+82del | ENSP00000509861.1:n.1545+80_1545+82del | |
| ENST00000371953.8:c.1026+80_1026+82del MANE Select | ENSP00000361021.3:n.1026+80_1026+82del | |
| ENST00000371953.7:c.1026+80_1026+82del | ENSP00000361021.3:n.1026+80_1026+82del | |
| ENST00000472832.2:c.533_535del | ENSP00000483066.1:n.533_535del | |
| NM_000314.5:c.1026+80_1026+82del | NP_000305.3:n.1026+80_1026+82del | |
| NM_000314.6:c.1026+80_1026+82del | NP_000305.3:n.1026+80_1026+82del | |
| NM_001304717.2:c.1545+80_1545+82del | NP_001291646.2:n.1545+80_1545+82del | |
| NM_001304718.1:c.435+80_435+82del | NP_001291647.1:n.435+80_435+82del | |
| XM_006717926.2:c.981+80_981+82del | XP_006717989.1:n.981+80_981+82del | |
| XM_011539981.1:c.1026+80_1026+82del | XP_011538283.1:n.1026+80_1026+82del | |
| XM_011539982.1:c.930+80_930+82del | XP_011538284.1:n.930+80_930+82del | |
| XR_945791.1:n.1596+80_1596+82del | ||
| NM_000314.7:c.1026+80_1026+82del | NP_000305.3:n.1026+80_1026+82del | |
| NM_001304717.5:c.1545+80_1545+82del | NP_001291646.4:n.1545+80_1545+82del | |
| NM_001304718.2:c.435+80_435+82del | NP_001291647.1:n.435+80_435+82del | |
| NM_000314.8:c.1026+80_1026+82del MANE Select | NP_000305.3:n.1026+80_1026+82del |