Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.93997876_93997886delinsCTGTGTGACTG , CM000663.2:g.93997876_93997886delinsCTGTGTGACTG | GRCh38 |
| NC_000001.10:g.94463432_94463442delinsCTGTGTGACTG , CM000663.1:g.94463432_94463442delinsCTGTGTGACTG | GRCh37 |
| NC_000001.9:g.94236020_94236030delinsCTGTGTGACTG | NCBI36 |
| NG_009073.1:g.128264_128274delinsCAGTCACACAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.6704_6714delinsCAGTCACACAG MANE Select | ENSP00000359245.3:p.Ser2235= | |
| ENST00000370225.3:c.6704_6714delinsCAGTCACACAG | ENSP00000359245.3:p.Ser2235= | |
| ENST00000536513.5:c.3080_3090delinsCAGTCACACAG | ENSP00000439707.2:p.Ser1027= | |
| NM_000350.2:c.6704_6714delinsCAGTCACACAG | NP_000341.2:p.Ser2235= | |
| NM_000350.3:c.6704_6714delinsCAGTCACACAG MANE Select | NP_000341.2:p.Ser2235= |