Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69648190_69648192del , CM000673.2:g.69648190_69648192del | GRCh38 |
| NC_000011.9:g.69462958_69462960del , CM000673.1:g.69462958_69462960del | GRCh37 |
| NC_000011.8:g.69172139_69172141del | NCBI36 |
| NG_007375.1:g.12086_12088del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227507.3:c.723+48_723+50del MANE Select | ENSP00000227507.2:n.723+48_723+50del | |
| ENST00000227507.2:c.723+48_723+50del | ENSP00000227507.2:n.723+48_723+50del | |
| ENST00000536559.1:c.*191_*193del | ENSP00000438482.1:n.*191_*193del | |
| ENST00000542367.1:n.186+48_186+50del | ||
| NM_053056.2:c.723+48_723+50del | NP_444284.1:n.723+48_723+50del | |
| XM_006718653.2:c.747+48_747+50del | XP_006718716.1:n.747+48_747+50del | |
| NM_053056.3:c.723+48_723+50del MANE Select | NP_444284.1:n.723+48_723+50del |