Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69648165_69648166insA , CM000673.2:g.69648165_69648166insA | GRCh38 |
| NC_000011.9:g.69462933_69462934insA , CM000673.1:g.69462933_69462934insA | GRCh37 |
| NC_000011.8:g.69172114_69172115insA | NCBI36 |
| NG_007375.1:g.12061_12062insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227507.3:c.723+23_723+24insA MANE Select | ENSP00000227507.2:n.723+23_723+24insA | |
| ENST00000227507.2:c.723+23_723+24insA | ENSP00000227507.2:n.723+23_723+24insA | |
| ENST00000536559.1:c.*166_*167insA | ENSP00000438482.1:n.*166_*167insA | |
| ENST00000542367.1:n.186+23_186+24insA | ||
| NM_053056.2:c.723+23_723+24insA | NP_444284.1:n.723+23_723+24insA | |
| XM_006718653.2:c.747+23_747+24insA | XP_006718716.1:n.747+23_747+24insA | |
| NM_053056.3:c.723+23_723+24insA MANE Select | NP_444284.1:n.723+23_723+24insA |