Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48380211_48380212del , CM000675.2:g.48380211_48380212del | GRCh38 |
| NC_000013.10:g.48954347_48954348del , CM000675.1:g.48954347_48954348del | GRCh37 |
| NC_000013.9:g.47852348_47852349del | NCBI36 |
| NG_009009.1:g.81465_81466del , LRG_517:g.81465_81466del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.1468_1469del MANE Select | ENSP00000267163.4:p.Ala490SerfsTer2 | |
| ENST00000650461.1:c.1468_1469del | ENSP00000497193.1:p.Ala490SerfsTer2 | |
| ENST00000267163.4:c.1468_1469del | ENSP00000267163.4:p.Ala490SerfsTer2 | |
| NM_000321.2:c.1468_1469del , LRG_517t1:c.1468_1469del | NP_000312.2:p.Ala490SerfsTer2 | |
| XM_011535171.1:c.1207_1208del | XP_011533473.1:p.Ala403SerfsTer2 | |
| XM_011535171.2:c.1207_1208del | XP_011533473.1:p.Ala403SerfsTer2 | |
| NM_000321.3:c.1468_1469del MANE Select | NP_000312.2:p.Ala490SerfsTer2 |