Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.13884633_13884634delinsAC , CM000680.2:g.13884633_13884634delinsAC | GRCh38 |
| NC_000018.9:g.13884632_13884633delinsAC , CM000680.1:g.13884632_13884633delinsAC | GRCh37 |
| NC_000018.8:g.13874632_13874633delinsAC | NCBI36 |
| NG_011819.1:g.35903_35904delinsGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327606.4:c.885_886delinsGT MANE Select | ENSP00000333821.2:p.Arg295= | |
| ENST00000327606.3:c.885_886delinsGT | ENSP00000333821.2:p.Arg295= | |
| NM_000529.2:c.885_886delinsGT MANE Select | NP_000520.1:p.Arg295= | |
| NM_001291911.1:c.885_886delinsGT | NP_001278840.1:p.Arg295= | |
| XM_017025781.1:c.885_886delinsGT | XP_016881270.1:p.Arg295= |