Linked Data
ClinVar Variation Id:
979009
dbSNP Id:
rs767436678
ExAC:
8:55540682 CAT / C
gnomAD v2:
8-55540682-CAT-C
gnomAD v4:
8-54628122-CAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.54628124_54628125del , CM000670.2:g.54628124_54628125del | GRCh38 |
| NC_000008.10:g.55540684_55540685del , CM000670.1:g.55540684_55540685del | GRCh37 |
| NC_000008.9:g.55703237_55703238del | NCBI36 |
| NG_009840.1:g.17058_17059del | |
| NG_009840.2:g.17058_17059del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220676.2:c.4242_4243del MANE Select | ENSP00000220676.1:p.His1414GlnfsTer5 | |
| ENST00000636932.1:c.787+5836_787+5837del | ENSP00000489857.1:n.787+5836_787+5837del | |
| ENST00000637698.1:c.787+5836_787+5837del | ENSP00000490104.1:n.787+5836_787+5837del | |
| ENST00000220676.1:c.4242_4243del | ENSP00000220676.1:p.His1414GlnfsTer5 | |
| NM_006269.1:c.4242_4243del | NP_006260.1:p.His1414GlnfsTer5 | |
| XM_017013721.1:c.4263_4264del | XP_016869210.1:p.His1421GlnfsTer5 | |
| XM_017013722.1:c.4242_4243del | XP_016869211.1:p.His1414GlnfsTer5 | |
| NM_001375654.1:c.787+5836_787+5837del | NP_001362583.1:n.787+5836_787+5837del | |
| NM_006269.2:c.4242_4243del MANE Select | NP_006260.1:p.His1414GlnfsTer5 |