Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48380059_48380061del , CM000675.2:g.48380059_48380061del | GRCh38 |
| NC_000013.10:g.48954195_48954197del , CM000675.1:g.48954195_48954197del | GRCh37 |
| NC_000013.9:g.47852196_47852198del | NCBI36 |
| NG_009009.1:g.81313_81315del , LRG_517:g.81313_81315del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.1396_1398del MANE Select | ENSP00000267163.4:p.Glu466del | |
| ENST00000650461.1:c.1396_1398del | ENSP00000497193.1:p.Glu466del | |
| ENST00000267163.4:c.1396_1398del | ENSP00000267163.4:p.Glu466del | |
| NM_000321.2:c.1396_1398del , LRG_517t1:c.1396_1398del | NP_000312.2:p.Glu466del | |
| XM_011535171.1:c.1135_1137del | XP_011533473.1:p.Glu379del | |
| XM_011535171.2:c.1135_1137del | XP_011533473.1:p.Glu379del | |
| NM_000321.3:c.1396_1398del MANE Select | NP_000312.2:p.Glu466del |