Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69648200_69648202del , CM000673.2:g.69648200_69648202del | GRCh38 |
| NC_000011.9:g.69462968_69462970del , CM000673.1:g.69462968_69462970del | GRCh37 |
| NC_000011.8:g.69172149_69172151del | NCBI36 |
| NG_007375.1:g.12096_12098del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227507.3:c.723+58_723+60del MANE Select | ENSP00000227507.2:n.723+58_723+60del | |
| ENST00000227507.2:c.723+58_723+60del | ENSP00000227507.2:n.723+58_723+60del | |
| ENST00000536559.1:c.*201_*203del | ENSP00000438482.1:n.*201_*203del | |
| ENST00000542367.1:n.186+58_186+60del | ||
| NM_053056.2:c.723+58_723+60del | NP_444284.1:n.723+58_723+60del | |
| XM_006718653.2:c.747+58_747+60del | XP_006718716.1:n.747+58_747+60del | |
| NM_053056.3:c.723+58_723+60del MANE Select | NP_444284.1:n.723+58_723+60del |