Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80275103_80275104insCGAC , CM000672.2:g.80275103_80275104insCGAC | GRCh38 |
| NC_000010.10:g.82034859_82034860insCGAC , CM000672.1:g.82034859_82034860insCGAC | GRCh37 |
| NC_000010.9:g.82024839_82024840insCGAC | NCBI36 |
| NG_008083.1:g.19575_19576insGTCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.864_865insGTCG MANE Select | ENSP00000361287.3:p.Lys289ValfsTer? | |
| ENST00000372213.7:c.864_865insGTCG | ENSP00000361287.3:p.Lys289ValfsTer? | |
| ENST00000480845.1:n.96_97insGTCG | ||
| ENST00000485270.5:n.376_377insGTCG | ||
| NM_000429.2:c.864_865insGTCG | NP_000420.1:p.Lys289ValfsTer? | |
| XM_005269842.3:c.864_865insGTCG | XP_005269899.1:p.Lys289ValfsTer? | |
| XM_005269843.3:c.741_742insGTCG | XP_005269900.1:p.Lys248ValfsTer? | |
| NM_000429.3:c.864_865insGTCG MANE Select | NP_000420.1:p.Lys289ValfsTer? |