Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69648179_69648180del , CM000673.2:g.69648179_69648180del | GRCh38 |
| NC_000011.9:g.69462947_69462948del , CM000673.1:g.69462947_69462948del | GRCh37 |
| NC_000011.8:g.69172128_69172129del | NCBI36 |
| NG_007375.1:g.12075_12076del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227507.3:c.723+37_723+38del MANE Select | ENSP00000227507.2:n.723+37_723+38del | |
| ENST00000227507.2:c.723+37_723+38del | ENSP00000227507.2:n.723+37_723+38del | |
| ENST00000536559.1:c.*180_*181del | ENSP00000438482.1:n.*180_*181del | |
| ENST00000542367.1:n.186+37_186+38del | ||
| NM_053056.2:c.723+37_723+38del | NP_444284.1:n.723+37_723+38del | |
| XM_006718653.2:c.747+37_747+38del | XP_006718716.1:n.747+37_747+38del | |
| NM_053056.3:c.723+37_723+38del MANE Select | NP_444284.1:n.723+37_723+38del |