Linked Data
ClinVar Variation Id:
370126
ClinVar RCV Id:
RCV000411218
dbSNP Id:
rs1057516253
gnomAD v4:
15-90798283-CAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90798284_90798285del , CM000677.2:g.90798284_90798285del | GRCh38 |
| NC_000015.9:g.91341514_91341515del , CM000677.1:g.91341514_91341515del | GRCh37 |
| NC_000015.8:g.89142518_89142519del | NCBI36 |
| NG_007272.1:g.85913_85914del , LRG_20:g.85913_85914del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355112.8:c.3305_3306del MANE Select | ENSP00000347232.3:p.His1102ArgfsTer20 | |
| ENST00000560559.2:n.1878_1879del | ||
| ENST00000648453.1:c.3305_3306del | ENSP00000497646.1:p.His1102ArgfsTer20 | |
| ENST00000680772.1:c.3305_3306del | ENSP00000506117.1:p.His1102ArgfsTer20 | |
| ENST00000681142.1:c.3305_3306del | ENSP00000506682.1:p.His1102ArgfsTer20 | |
| ENST00000355112.7:c.3305_3306del | ENSP00000347232.3:p.His1102ArgfsTer20 | |
| ENST00000558825.5:n.652_653del | ||
| ENST00000559724.5:c.*2229_*2230del | ENSP00000453359.1:n.*2229_*2230del | |
| ENST00000560136.5:n.1331_1332del | ||
| ENST00000560509.5:c.3305_3306del | ENSP00000454158.1:p.His1102ArgfsTer23 | |
| NM_000057.3:c.3305_3306del | NP_000048.1:p.His1102ArgfsTer20 | |
| NM_001287246.1:c.3305_3306del | NP_001274175.1:p.His1102ArgfsTer20 | |
| NM_001287247.1:c.3305_3306del | NP_001274176.1:p.His1102ArgfsTer23 | |
| NM_001287248.1:c.2180_2181del | NP_001274177.1:p.His727ArgfsTer20 | |
| XM_006720632.2:c.1343_1344del | XP_006720695.1:p.His448ArgfsTer20 | |
| XM_011521881.1:c.1991_1992del | XP_011520183.1:p.His664ArgfsTer20 | |
| XM_011521881.2:c.1991_1992del | XP_011520183.1:p.His664ArgfsTer20 | |
| NM_000057.4:c.3305_3306del MANE Select | NP_000048.1:p.His1102ArgfsTer20 | |
| NM_001287246.2:c.3305_3306del | NP_001274175.1:p.His1102ArgfsTer20 | |
| NM_001287247.2:c.3305_3306del | NP_001274176.1:p.His1102ArgfsTer23 | |
| NM_001287248.2:c.2180_2181del | NP_001274177.1:p.His727ArgfsTer20 |