Linked Data
dbSNP Id:
rs137877155
MyVariant Identifiers:
chr17:g.62018373_62018374insGGGGG (hg19)
chr17:g.63941013_63941014insGGGGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63941014_63941015insGGGGG , CM000679.2:g.63941014_63941015insGGGGG | GRCh38 |
| NC_000017.10:g.62018374_62018375insGGGGG , CM000679.1:g.62018374_62018375insGGGGG | GRCh37 |
| NC_000017.9:g.59372106_59372107insGGGGG | NCBI36 |
| NG_011699.1:g.36905_36906insCCCCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.5268_5269insCCCCC MANE Select | ENSP00000396320.1:p.Ser1757ProfsTer22 | |
| ENST00000578147.5:c.5268_5269insCCCCC | ENSP00000463963.1:p.Ser1757ProfsTer22 | |
| NM_000334.4:c.5268_5269insCCCCC MANE Select | NP_000325.4:p.Ser1757ProfsTer22 | |
| XM_005257566.3:c.5268_5269insCCCCC | XP_005257623.1:p.Ser1757ProfsTer22 |