Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43886990_43886991delinsAC , CM000664.2:g.43886990_43886991delinsAC | GRCh38 |
| NC_000002.11:g.44114129_44114130delinsAC , CM000664.1:g.44114129_44114130delinsAC | GRCh37 |
| NC_000002.10:g.43967633_43967634delinsAC | NCBI36 |
| NG_008247.1:g.114015_114016delinsGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682612.1:c.2561_2562delinsGT | ||
| ENST00000684454.1:n.9658_9659delinsGT | ||
| ENST00000260665.12:c.*1609_*1610delinsGT MANE Select | ENSP00000260665.7:n.*1609_*1610delinsGT | |
| ENST00000260665.11:c.*1609_*1610delinsGT | ENSP00000260665.7:n.*1609_*1610delinsGT | |
| NM_133259.3:c.*1609_*1610delinsGT | NP_573566.2:n.*1609_*1610delinsGT | |
| XR_002958896.1:n.5976_5977delinsGT | ||
| NM_133259.4:c.*1609_*1610delinsGT MANE Select | NP_573566.2:n.*1609_*1610delinsGT |