Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69648203_69648204del , CM000673.2:g.69648203_69648204del | GRCh38 |
| NC_000011.9:g.69462971_69462972del , CM000673.1:g.69462971_69462972del | GRCh37 |
| NC_000011.8:g.69172152_69172153del | NCBI36 |
| NG_007375.1:g.12099_12100del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227507.3:c.723+61_723+62del MANE Select | ENSP00000227507.2:n.723+61_723+62del | |
| ENST00000227507.2:c.723+61_723+62del | ENSP00000227507.2:n.723+61_723+62del | |
| ENST00000536559.1:c.*204_*205del | ENSP00000438482.1:n.*204_*205del | |
| ENST00000542367.1:n.186+61_186+62del | ||
| NM_053056.2:c.723+61_723+62del | NP_444284.1:n.723+61_723+62del | |
| XM_006718653.2:c.747+61_747+62del | XP_006718716.1:n.747+61_747+62del | |
| NM_053056.3:c.723+61_723+62del MANE Select | NP_444284.1:n.723+61_723+62del |