Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69648222_69648223insA , CM000673.2:g.69648222_69648223insA | GRCh38 |
| NC_000011.9:g.69462990_69462991insA , CM000673.1:g.69462990_69462991insA | GRCh37 |
| NC_000011.8:g.69172171_69172172insA | NCBI36 |
| NG_007375.1:g.12118_12119insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227507.3:c.723+80_723+81insA MANE Select | ENSP00000227507.2:n.723+80_723+81insA | |
| ENST00000227507.2:c.723+80_723+81insA | ENSP00000227507.2:n.723+80_723+81insA | |
| ENST00000536559.1:c.*223_*224insA | ENSP00000438482.1:n.*223_*224insA | |
| ENST00000542367.1:n.186+80_186+81insA | ||
| NM_053056.2:c.723+80_723+81insA | NP_444284.1:n.723+80_723+81insA | |
| XM_006718653.2:c.747+80_747+81insA | XP_006718716.1:n.747+80_747+81insA | |
| NM_053056.3:c.723+80_723+81insA MANE Select | NP_444284.1:n.723+80_723+81insA |