Linked Data
dbSNP Id:
rs2147429332
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.21845318_21845326dup , CM000685.2:g.21845318_21845326dup | GRCh38 |
| NC_000023.10:g.21863436_21863444dup , CM000685.1:g.21863436_21863444dup | GRCh37 |
| NC_000023.9:g.21773357_21773365dup | NCBI36 |
| NG_012797.1:g.10781_10789dup | |
| NG_012797.2:g.10781_10789dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379484.10:c.372_380dup MANE Select | ENSP00000368798.5:p.Ser127_Ser128insSerSerSer | |
| ENST00000365779.2:c.372_380dup | ENSP00000368796.1:p.Ser127_Ser128insSerSerSer | |
| ENST00000379484.9:c.372_380dup | ENSP00000368798.5:p.Ser127_Ser128insSerSerSer | |
| ENST00000465888.1:n.471_479dup | ||
| NM_015884.3:c.372_380dup | NP_056968.1:p.Ser127_Ser128insSerSerSer | |
| NM_015884.4:c.372_380dup MANE Select | NP_056968.1:p.Ser127_Ser128insSerSerSer |