Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.640417_640418delinsGG , CM000673.2:g.640417_640418delinsGG | GRCh38 |
| NC_000011.9:g.640417_640418delinsGG , CM000673.1:g.640417_640418delinsGG | GRCh37 |
| NC_000011.8:g.630417_630418delinsGG | NCBI36 |
| NG_021241.1:g.8113_8114delinsGG |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000797.4:c.1074_1075delinsGG MANE Select | NP_000788.2:p.Cys358_Trp359delinsTrpGly |
| ENST00000176183.6:c.1074_1075delinsGG MANE Select | ENSP00000176183.5:p.Cys358_Trp359delinsTrpGly |
| NM_000797.3:c.1074_1075delinsGG | NP_000788.2:p.Cys358_Trp359delinsTrpGly |
| ENST00000176183.5:c.1074_1075delinsGG | ENSP00000176183.5:p.Cys358_Trp359delinsTrpGly |