Linked Data
ClinVar Variation Id:
374753
ClinVar RCV Id:
RCV000415987
dbSNP Id:
rs1057519232
gnomAD v4:
16-23417092-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23417092_23417093insA , CM000678.2:g.23417092_23417093insA | GRCh38 |
| NC_000016.9:g.23428413_23428414insA , CM000678.1:g.23428413_23428414insA | GRCh37 |
| NC_000016.8:g.23335914_23335915insA | NCBI36 |
| NG_021287.1:g.41099_41100insT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307149.10:c.1166_1167insT MANE Select | ENSP00000305442.5:p.Gln389HisfsTer19 | |
| ENST00000307149.9:c.1166_1167insT | ENSP00000305442.5:p.Gln389HisfsTer19 | |
| ENST00000567821.1:n.201_202insT | ||
| NM_153603.3:c.1166_1167insT | NP_705831.1:p.Gln389HisfsTer19 | |
| XR_429680.1:n.1382_1383insT | ||
| XM_017023870.1:c.971_972insT | XP_016879359.1:p.Gln324HisfsTer19 | |
| XR_002957852.1:n.1387_1388insT | ||
| XR_429680.2:n.1387_1388insT | ||
| NM_153603.4:c.1166_1167insT MANE Select | NP_705831.1:p.Gln389HisfsTer19 |