Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69648261_69648266del , CM000673.2:g.69648261_69648266del | GRCh38 |
| NC_000011.9:g.69463029_69463034del , CM000673.1:g.69463029_69463034del | GRCh37 |
| NC_000011.8:g.69172210_69172215del | NCBI36 |
| NG_007375.1:g.12157_12162del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227507.3:c.723+119_723+124del MANE Select | ENSP00000227507.2:n.723+119_723+124del | |
| ENST00000227507.2:c.723+119_723+124del | ENSP00000227507.2:n.723+119_723+124del | |
| ENST00000542367.1:n.186+119_186+124del | ||
| NM_053056.2:c.723+119_723+124del | NP_444284.1:n.723+119_723+124del | |
| XM_006718653.2:c.747+119_747+124del | XP_006718716.1:n.747+119_747+124del | |
| NM_053056.3:c.723+119_723+124del MANE Select | NP_444284.1:n.723+119_723+124del |