Linked Data
ClinVar Variation Id:
1401523
ClinVar RCV Id:
RCV001912914
dbSNP Id:
rs770496917
ExAC:
12:56398483 CTGTAGAA / C
gnomAD v2:
12-56398483-CTGTAGAA-C
gnomAD v3:
12-56004699-CTGTAGAA-C
gnomAD v4:
12-56004699-CTGTAGAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56004701_56004707del , CM000674.2:g.56004701_56004707del | GRCh38 |
| NC_000012.11:g.56398485_56398491del , CM000674.1:g.56398485_56398491del | GRCh37 |
| NC_000012.10:g.54684752_54684758del | NCBI36 |
| NG_008136.1:g.12443_12449del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266971.8:c.1312_1318del MANE Select | ENSP00000266971.3:p.Val438GlnfsTer4 | |
| ENST00000266971.7:c.1312_1318del | ENSP00000266971.3:p.Val438GlnfsTer4 | |
| ENST00000356124.8:c.1312_1318del | ENSP00000348440.4:p.Val438GlnfsTer4 | |
| ENST00000394109.7:c.1312_1318del | ENSP00000377668.3:p.Val438GlnfsTer4 | |
| ENST00000394115.6:c.1312_1318del | ENSP00000377674.2:p.Val438GlnfsTer4 | |
| ENST00000548274.5:c.1312_1318del | ENSP00000450245.1:p.Val438GlnfsTer4 | |
| ENST00000550065.1:c.1312_1318del | ENSP00000450264.1:p.Val438GlnfsTer4 | |
| NM_000456.2:c.1312_1318del | NP_000447.2:p.Val438GlnfsTer4 | |
| NM_001032386.1:c.1312_1318del | NP_001027558.1:p.Val438GlnfsTer4 | |
| NM_001032387.1:c.1312_1318del | NP_001027559.1:p.Val438GlnfsTer4 | |
| XM_005269112.1:c.1333_1339del | XP_005269169.1:p.Val445GlnfsTer4 | |
| XM_017019905.2:c.1333_1339del | XP_016875394.1:p.Val445GlnfsTer4 | |
| XM_017019906.1:c.1333_1339del | XP_016875395.1:p.Val445GlnfsTer4 | |
| XM_017019907.2:c.1312_1318del | XP_016875396.1:p.Val438GlnfsTer4 | |
| XM_017019908.1:c.1312_1318del | XP_016875397.1:p.Val438GlnfsTer4 | |
| XM_024449167.1:c.1333_1339del | XP_024304935.1:p.Val445GlnfsTer4 | |
| NM_001032386.2:c.1312_1318del MANE Select | NP_001027558.1:p.Val438GlnfsTer4 | |
| NM_000456.3:c.1312_1318del | NP_000447.2:p.Val438GlnfsTer4 | |
| NM_001032387.2:c.1312_1318del | NP_001027559.1:p.Val438GlnfsTer4 |