Linked Data
dbSNP Id:
rs765420850
ExAC:
7:23296649 GA / G
gnomAD v2:
7-23296649-GA-G
gnomAD v3:
7-23257030-GA-G
gnomAD v4:
7-23257030-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.23257032del , CM000669.2:g.23257032del | GRCh38 |
| NC_000007.13:g.23296651del , CM000669.1:g.23296651del | GRCh37 |
| NC_000007.12:g.23263176del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258733.9:c.508del MANE Select | ENSP00000258733.5:p.Arg170AspfsTer23 | |
| ENST00000647578.1:c.508del | ENSP00000497362.1:p.Arg170AspfsTer23 | |
| ENST00000258733.8:c.508del | ENSP00000258733.4:p.Arg170AspfsTer23 | |
| ENST00000381990.6:c.508del | ENSP00000371420.2:p.Arg170AspfsTer23 | |
| ENST00000409458.3:c.508del | ENSP00000386476.3:p.Arg170AspfsTer26 | |
| ENST00000465673.5:n.686del | ||
| ENST00000492858.6:n.710del | ||
| NM_001005340.1:c.508del | NP_001005340.1:p.Arg170AspfsTer23 | |
| NM_002510.2:c.508del | NP_002501.1:p.Arg170AspfsTer23 | |
| XM_005249578.1:c.508del | XP_005249635.1:p.Arg170AspfsTer23 | |
| XM_005249578.3:c.508del | XP_005249635.1:p.Arg170AspfsTer23 | |
| XM_017011676.2:c.508del | XP_016867165.1:p.Arg170AspfsTer23 | |
| XM_017011677.2:c.508del | XP_016867166.1:p.Arg170AspfsTer23 | |
| XM_017011678.2:c.508del | XP_016867167.1:p.Arg170AspfsTer23 | |
| NM_001005340.2:c.508del | NP_001005340.1:p.Arg170AspfsTer23 | |
| NM_002510.3:c.508del MANE Select | NP_002501.1:p.Arg170AspfsTer23 |