Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44288423_44288424insCAT , CM000683.2:g.44288423_44288424insCAT | GRCh38 |
| NC_000021.8:g.45708306_45708307insCAT , CM000683.1:g.45708306_45708307insCAT | GRCh37 |
| NC_000021.7:g.44532734_44532735insCAT | NCBI36 |
| NG_009556.1:g.7544_7545insCAT , LRG_18:g.7544_7545insCAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.617_618insCAT MANE Select | ENSP00000291582.5:p.Val206_Glu207insMet | |
| ENST00000291582.5:c.617_618insCAT | ENSP00000291582.5:p.Val206_Glu207insMet | |
| ENST00000527919.5:n.1161_1162insCAT | ||
| ENST00000530812.5:n.1169_1170insCAT | ||
| NM_000383.3:c.617_618insCAT | NP_000374.1:p.Val206_Glu207insMet | |
| XM_011529551.1:c.617_618insCAT | XP_011527853.1:p.Val206_Glu207insMet | |
| NM_000383.4:c.617_618insCAT MANE Select | NP_000374.1:p.Val206_Glu207insMet |