Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.21845329_21845330insCTCTTC , CM000685.2:g.21845329_21845330insCTCTTC | GRCh38 |
| NC_000023.10:g.21863447_21863448insCTCTTC , CM000685.1:g.21863447_21863448insCTCTTC | GRCh37 |
| NC_000023.9:g.21773368_21773369insCTCTTC | NCBI36 |
| NG_012797.1:g.10792_10793insCTCTTC | |
| NG_012797.2:g.10792_10793insCTCTTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379484.10:c.383_384insCTCTTC MANE Select | ENSP00000368798.5:p.Ser128_Ser129insSerSer | |
| ENST00000365779.2:c.383_384insCTCTTC | ENSP00000368796.1:p.Ser128_Ser129insSerSer | |
| ENST00000379484.9:c.383_384insCTCTTC | ENSP00000368798.5:p.Ser128_Ser129insSerSer | |
| ENST00000465888.1:n.482_483insCTCTTC | ||
| NM_015884.3:c.383_384insCTCTTC | NP_056968.1:p.Ser128_Ser129insSerSer | |
| NM_015884.4:c.383_384insCTCTTC MANE Select | NP_056968.1:p.Ser128_Ser129insSerSer |