Linked Data
gnomAD v4:
19-18786080-G-GCCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18786080_18786081insCCA , CM000681.2:g.18786080_18786081insCCA | GRCh38 |
| NC_000019.9:g.18896890_18896891insCCA , CM000681.1:g.18896890_18896891insCCA | GRCh37 |
| NC_000019.8:g.18757890_18757891insCCA | NCBI36 |
| NG_007070.1:g.10224_10225insTGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1373_1374insTGG MANE Select | ENSP00000222271.2:p.Asp458_Ser459insGly | |
| ENST00000222271.6:c.1373_1374insTGG | ENSP00000222271.2:p.Asp458_Ser459insGly | |
| ENST00000425807.1:c.1214_1215insTGG | ENSP00000403792.1:p.Asp405_Ser406insGly | |
| ENST00000542601.6:c.1274_1275insTGG | ENSP00000439156.2:p.Asp425_Ser426insGly | |
| NM_000095.2:c.1373_1374insTGG | NP_000086.2:p.Asp458_Ser459insGly | |
| NM_000095.3:c.1373_1374insTGG MANE Select | NP_000086.2:p.Asp458_Ser459insGly |