Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69648196_69648197del , CM000673.2:g.69648196_69648197del | GRCh38 |
| NC_000011.9:g.69462964_69462965del , CM000673.1:g.69462964_69462965del | GRCh37 |
| NC_000011.8:g.69172145_69172146del | NCBI36 |
| NG_007375.1:g.12092_12093del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227507.3:c.723+54_723+55del MANE Select | ENSP00000227507.2:n.723+54_723+55del | |
| ENST00000227507.2:c.723+54_723+55del | ENSP00000227507.2:n.723+54_723+55del | |
| ENST00000536559.1:c.*197_*198del | ENSP00000438482.1:n.*197_*198del | |
| ENST00000542367.1:n.186+54_186+55del | ||
| NM_053056.2:c.723+54_723+55del | NP_444284.1:n.723+54_723+55del | |
| XM_006718653.2:c.747+54_747+55del | XP_006718716.1:n.747+54_747+55del | |
| NM_053056.3:c.723+54_723+55del MANE Select | NP_444284.1:n.723+54_723+55del |