Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69648180_69648181insA , CM000673.2:g.69648180_69648181insA | GRCh38 |
| NC_000011.9:g.69462948_69462949insA , CM000673.1:g.69462948_69462949insA | GRCh37 |
| NC_000011.8:g.69172129_69172130insA | NCBI36 |
| NG_007375.1:g.12076_12077insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227507.3:c.723+38_723+39insA MANE Select | ENSP00000227507.2:n.723+38_723+39insA | |
| ENST00000227507.2:c.723+38_723+39insA | ENSP00000227507.2:n.723+38_723+39insA | |
| ENST00000536559.1:c.*181_*182insA | ENSP00000438482.1:n.*181_*182insA | |
| ENST00000542367.1:n.186+38_186+39insA | ||
| NM_053056.2:c.723+38_723+39insA | NP_444284.1:n.723+38_723+39insA | |
| XM_006718653.2:c.747+38_747+39insA | XP_006718716.1:n.747+38_747+39insA | |
| NM_053056.3:c.723+38_723+39insA MANE Select | NP_444284.1:n.723+38_723+39insA |