Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202520129del , CM000664.2:g.202520129del | GRCh38 |
| NC_000002.11:g.203384852del , CM000664.1:g.203384852del | GRCh37 |
| NC_000002.10:g.203093097del | NCBI36 |
| NG_009363.1:g.148803del , LRG_712:g.148803del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.895del MANE Select | ENSP00000363708.4:p.Val299Ter | |
| ENST00000638587.1:c.826del | ENSP00000491062.1:p.Val276Ter | |
| ENST00000374574.2:c.895del | ENSP00000363702.2:p.Val299Ter | |
| ENST00000374580.8:c.895del | ENSP00000363708.4:p.Val299Ter | |
| NM_001204.6:c.895del , LRG_712t1:c.895del | NP_001195.2:p.Val299Ter | |
| XM_011511687.1:c.895del | XP_011509989.1:p.Val299Ter | |
| XM_011511688.1:c.895del | XP_011509990.1:p.Val299Ter | |
| NM_001204.7:c.895del MANE Select | NP_001195.2:p.Val299Ter |