Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45393696_45393697delinsAT , CM000677.2:g.45393696_45393697delinsAT | GRCh38 |
| NC_000015.9:g.45685894_45685895delinsAT , CM000677.1:g.45685894_45685895delinsAT | GRCh37 |
| NC_000015.8:g.43473186_43473187delinsAT | NCBI36 |
| NG_011674.2:g.13621_13622delinsAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000458245.5:n.640+3225_640+3226delinsAT | ||
| ENST00000527933.2:n.512+2470_512+2471delinsAT | ||
| ENST00000560538.1:n.338+3225_338+3226delinsAT | ||
| ENST00000561148.5:c.-319+3225_-319+3226delinsAT | ENSP00000453860.1:n.-319+3225_-319+3226delinsAT | |
| XM_011521450.1:c.31+3225_31+3226delinsAT | XP_011519752.1:n.31+3225_31+3226delinsAT | |
| NM_001321015.1:c.-395+3225_-395+3226delinsAT | NP_001307944.1:n.-395+3225_-395+3226delinsAT | |
| NM_001321015.2:c.-395+3225_-395+3226delinsAT | NP_001307944.1:n.-395+3225_-395+3226delinsAT |