Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69648222_69648225del , CM000673.2:g.69648222_69648225del | GRCh38 |
| NC_000011.9:g.69462990_69462993del , CM000673.1:g.69462990_69462993del | GRCh37 |
| NC_000011.8:g.69172171_69172174del | NCBI36 |
| NG_007375.1:g.12118_12121del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227507.3:c.723+80_723+83del MANE Select | ENSP00000227507.2:n.723+80_723+83del | |
| ENST00000227507.2:c.723+80_723+83del | ENSP00000227507.2:n.723+80_723+83del | |
| ENST00000536559.1:c.*223_*226del | ENSP00000438482.1:n.*223_*226del | |
| ENST00000542367.1:n.186+80_186+83del | ||
| NM_053056.2:c.723+80_723+83del | NP_444284.1:n.723+80_723+83del | |
| XM_006718653.2:c.747+80_747+83del | XP_006718716.1:n.747+80_747+83del | |
| NM_053056.3:c.723+80_723+83del MANE Select | NP_444284.1:n.723+80_723+83del |