Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159320412_159320417delinsACTGTC , CM000667.2:g.159320412_159320417delinsACTGTC | GRCh38 |
| NC_000005.9:g.158747420_158747425delinsACTGTC , CM000667.1:g.158747420_158747425delinsACTGTC | GRCh37 |
| NC_000005.8:g.158679998_158680003delinsACTGTC | NCBI36 |
| NG_009618.1:g.15057_15062delinsGACAGT , LRG_71:g.15057_15062delinsGACAGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696750.1:c.-45_-40delinsGACAGT | ENSP00000512849.1:n.-45_-40delinsGACAGT | |
| ENST00000696751.1:c.*81_*86delinsGACAGT | ENSP00000512850.1:n.*81_*86delinsGACAGT | |
| ENST00000231228.3:c.586_591delinsGACAGT MANE Select | ENSP00000231228.2:p.Asp196= | |
| ENST00000231228.2:c.586_591delinsGACAGT | ENSP00000231228.2:p.Asp196= | |
| NM_002187.2:c.586_591delinsGACAGT , LRG_71t1:c.586_591delinsGACAGT | NP_002178.2:p.Asp196= | |
| NM_002187.3:c.586_591delinsGACAGT MANE Select | NP_002178.2:p.Asp196= |