Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225693_5225694delinsC , CM000673.2:g.5225693_5225694delinsC | GRCh38 |
| NC_000011.9:g.5246923_5246924delinsC , CM000673.1:g.5246923_5246924delinsC | GRCh37 |
| NC_000011.8:g.5203499_5203500delinsC | NCBI36 |
| NG_000007.3:g.71922_71923delinsG | |
| NG_059281.1:g.6378_6379delinsG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.348_349delinsG | ENSP00000494175.1:p.His117IlefsTer? | |
| ENST00000335295.4:c.348_349delinsG MANE Select | ENSP00000333994.3:p.His117IlefsTer? | |
| ENST00000475226.1:n.280_281delinsG | ||
| ENST00000633227.1:c.*164_*165delinsG | ENSP00000488004.1:n.*164_*165delinsG | |
| NM_000518.4:c.348_349delinsG | NP_000509.1:p.His117IlefsTer? | |
| NM_000518.5:c.348_349delinsG MANE Select | NP_000509.1:p.His117IlefsTer? |