Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69648171_69648173del , CM000673.2:g.69648171_69648173del | GRCh38 |
| NC_000011.9:g.69462939_69462941del , CM000673.1:g.69462939_69462941del | GRCh37 |
| NC_000011.8:g.69172120_69172122del | NCBI36 |
| NG_007375.1:g.12067_12069del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227507.3:c.723+29_723+31del MANE Select | ENSP00000227507.2:n.723+29_723+31del | |
| ENST00000227507.2:c.723+29_723+31del | ENSP00000227507.2:n.723+29_723+31del | |
| ENST00000536559.1:c.*172_*174del | ENSP00000438482.1:n.*172_*174del | |
| ENST00000542367.1:n.186+29_186+31del | ||
| NM_053056.2:c.723+29_723+31del | NP_444284.1:n.723+29_723+31del | |
| XM_006718653.2:c.747+29_747+31del | XP_006718716.1:n.747+29_747+31del | |
| NM_053056.3:c.723+29_723+31del MANE Select | NP_444284.1:n.723+29_723+31del |