Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48303921_48303922delinsGG , CM000675.2:g.48303921_48303922delinsGG | GRCh38 |
| NC_000013.10:g.48878057_48878058delinsGG , CM000675.1:g.48878057_48878058delinsGG | GRCh37 |
| NC_000013.9:g.47776058_47776059delinsGG | NCBI36 |
| NG_009009.1:g.5175_5176delinsGG , LRG_517:g.5175_5176delinsGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.9_10delinsGG MANE Select | ENSP00000267163.4:p.Lys4Glu | |
| ENST00000646097.1:c.9_10delinsGG | ENSP00000496556.1:p.Lys4Glu | |
| ENST00000650461.1:c.9_10delinsGG | ENSP00000497193.1:p.Lys4Glu | |
| ENST00000267163.4:c.9_10delinsGG | ENSP00000267163.4:p.Lys4Glu | |
| ENST00000467505.5:c.9_10delinsGG | ENSP00000434702.1:p.Lys4Glu | |
| ENST00000525036.1:n.171_172delinsGG | ||
| NM_000321.2:c.9_10delinsGG , LRG_517t1:c.9_10delinsGG | NP_000312.2:p.Lys4Glu | |
| NM_000321.3:c.9_10delinsGG MANE Select | NP_000312.2:p.Lys4Glu |