Linked Data
ClinVar Variation Id:
2181643
ClinVar RCV Id:
RCV002606251
dbSNP Id:
rs763761460
gnomAD v2:
21-19653425-T-TGACAATTTCATCTATTAATC
gnomAD v3:
21-18281108-T-TGACAATTTCATCTATTAATC
gnomAD v4:
21-18281108-T-TGACAATTTCATCTATTAATC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.18281110_18281111insCAATTTCATCTATTAATCGA , CM000683.2:g.18281110_18281111insCAATTTCATCTATTAATCGA | GRCh38 |
| NC_000021.8:g.19653427_19653428insCAATTTCATCTATTAATCGA , CM000683.1:g.19653427_19653428insCAATTTCATCTATTAATCGA | GRCh37 |
| NC_000021.7:g.18575298_18575299insCAATTTCATCTATTAATCGA | NCBI36 |
| NG_012207.1:g.127545_127546insGATTAATAGATGAAATTGTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284885.8:c.2599_2600insGATTAATAGATGAAATTGTC MANE Select | ENSP00000284885.3:p.His867ArgfsTer20 | |
| ENST00000284885.7:c.2599_2600insGATTAATAGATGAAATTGTC | ENSP00000284885.3:p.His867ArgfsTer20 | |
| NM_002772.2:c.2599_2600insGATTAATAGATGAAATTGTC | NP_002763.2:p.His867ArgfsTer20 | |
| XM_011529654.1:c.2734_2735insGATTAATAGATGAAATTGTC | XP_011527956.1:p.His912ArgfsTer20 | |
| XM_011529655.1:c.2734_2735insGATTAATAGATGAAATTGTC | XP_011527957.1:p.His912ArgfsTer20 | |
| XM_011529656.1:c.2734_2735insGATTAATAGATGAAATTGTC | XP_011527958.1:p.His912ArgfsTer20 | |
| XM_011529657.1:c.2689_2690insGATTAATAGATGAAATTGTC | XP_011527959.1:p.His897ArgfsTer20 | |
| XM_011529658.1:c.2653_2654insGATTAATAGATGAAATTGTC | XP_011527960.1:p.His885ArgfsTer20 | |
| XM_011529659.1:c.2644_2645insGATTAATAGATGAAATTGTC | XP_011527961.1:p.His882ArgfsTer20 | |
| XM_011529654.2:c.2734_2735insGATTAATAGATGAAATTGTC | XP_011527956.1:p.His912ArgfsTer20 | |
| XM_011529656.2:c.2734_2735insGATTAATAGATGAAATTGTC | XP_011527958.1:p.His912ArgfsTer20 | |
| XM_011529657.2:c.2689_2690insGATTAATAGATGAAATTGTC | XP_011527959.1:p.His897ArgfsTer20 | |
| XM_011529658.2:c.2653_2654insGATTAATAGATGAAATTGTC | XP_011527960.1:p.His885ArgfsTer20 | |
| NM_002772.3:c.2599_2600insGATTAATAGATGAAATTGTC MANE Select | NP_002763.3:p.His867ArgfsTer20 |