Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229432762_229432763delinsTC , CM000663.2:g.229432762_229432763delinsTC | GRCh38 |
| NC_000001.10:g.229568509_229568510delinsTC , CM000663.1:g.229568509_229568510delinsTC | GRCh37 |
| NC_000001.9:g.227635132_227635133delinsTC | NCBI36 |
| NG_006672.1:g.6334_6335delinsGA , LRG_429:g.6334_6335delinsGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.247_248delinsGA | ENSP00000355644.4:p.Asp83= | |
| ENST00000684723.1:c.112_113delinsGA | ENSP00000508084.1:p.Asp38= | |
| ENST00000366683.3:c.247_248delinsGA | ENSP00000355644.3:p.Asp83= | |
| ENST00000366684.7:c.247_248delinsGA MANE Select | ENSP00000355645.3:p.Asp83= | |
| NM_001100.3:c.247_248delinsGA , LRG_429t1:c.247_248delinsGA | NP_001091.1:p.Asp83= | |
| NM_001100.4:c.247_248delinsGA MANE Select | NP_001091.1:p.Asp83= |