Linked Data
ClinVar Variation Id:
189558
ClinVar RCV Id:
RCV000169998
dbSNP Id:
rs786204971
PubMed:
PMID:23064044
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18604356_18604357insT , CM000685.2:g.18604356_18604357insT | GRCh38 |
| NC_000023.10:g.18622476_18622477insT , CM000685.1:g.18622476_18622477insT | GRCh37 |
| NC_000023.9:g.18532397_18532398insT | NCBI36 |
| NG_008475.1:g.183752_183753insT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000623535.2:c.1432_1433insT MANE Select | ENSP00000485244.1:p.Arg478MetfsTer17 | |
| ENST00000635828.1:c.1432_1433insT | ENSP00000490170.1:p.Arg478MetfsTer17 | |
| ENST00000674046.1:c.1432_1433insT | ENSP00000501174.1:p.Arg478MetfsTer17 | |
| ENST00000379989.6:c.1432_1433insT | ENSP00000369325.3:p.Arg478MetfsTer17 | |
| ENST00000379996.7:c.1432_1433insT | ENSP00000369332.3:p.Arg478MetfsTer17 | |
| ENST00000463994.4:c.1432_1433insT | ENSP00000485184.1:p.Arg478MetfsTer17 | |
| ENST00000623535.1:c.1432_1433insT | ENSP00000485244.1:p.Arg478MetfsTer17 | |
| NM_001037343.1:c.1432_1433insT | NP_001032420.1:p.Arg478MetfsTer17 | |
| NM_003159.2:c.1432_1433insT | NP_003150.1:p.Arg478MetfsTer17 | |
| XM_011545569.1:c.1381_1382insT | XP_011543871.1:p.Arg461MetfsTer17 | |
| XM_011545570.1:c.1300_1301insT | XP_011543872.1:p.Arg434MetfsTer17 | |
| XR_950484.1:n.1684_1685insT | ||
| NM_001323289.1:c.1432_1433insT | NP_001310218.1:p.Arg478MetfsTer17 | |
| NM_001323289.2:c.1432_1433insT MANE Select | NP_001310218.1:p.Arg478MetfsTer17 | |
| NM_001037343.2:c.1432_1433insT | NP_001032420.1:p.Arg478MetfsTer17 | |
| NM_003159.3:c.1432_1433insT | NP_003150.1:p.Arg478MetfsTer17 |