Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29073006_29073014del , CM000664.2:g.29073006_29073014del | GRCh38 |
| NC_000002.11:g.29295872_29295880del , CM000664.1:g.29295872_29295880del | GRCh37 |
| NC_000002.10:g.29149376_29149384del | NCBI36 |
| NG_021427.1:g.6251_6259del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331664.6:c.1251_1259del MANE Select | ENSP00000332809.4:p.Pro418_Ala420del | |
| ENST00000331664.5:c.1251_1259del | ENSP00000332809.4:p.Pro418_Ala420del | |
| NM_001029883.2:c.1251_1259del | NP_001025054.1:p.Pro418_Ala420del | |
| XM_011532826.1:c.1251_1259del | XP_011531128.1:p.Pro418_Ala420del | |
| XR_939901.1:n.185+3839_185+3847del | ||
| XR_939902.1:n.173+3851_173+3859del | ||
| NM_001029883.3:c.1251_1259del MANE Select | NP_001025054.1:p.Pro418_Ala420del |