Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69648181_69648182del , CM000673.2:g.69648181_69648182del | GRCh38 |
| NC_000011.9:g.69462949_69462950del , CM000673.1:g.69462949_69462950del | GRCh37 |
| NC_000011.8:g.69172130_69172131del | NCBI36 |
| NG_007375.1:g.12077_12078del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227507.3:c.723+39_723+40del MANE Select | ENSP00000227507.2:n.723+39_723+40del | |
| ENST00000227507.2:c.723+39_723+40del | ENSP00000227507.2:n.723+39_723+40del | |
| ENST00000536559.1:c.*182_*183del | ENSP00000438482.1:n.*182_*183del | |
| ENST00000542367.1:n.186+39_186+40del | ||
| NM_053056.2:c.723+39_723+40del | NP_444284.1:n.723+39_723+40del | |
| XM_006718653.2:c.747+39_747+40del | XP_006718716.1:n.747+39_747+40del | |
| NM_053056.3:c.723+39_723+40del MANE Select | NP_444284.1:n.723+39_723+40del |