Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41612351_41612352delinsAG , CM000679.2:g.41612351_41612352delinsAG | GRCh38 |
| NC_000017.10:g.39768603_39768604delinsAG , CM000679.1:g.39768603_39768604delinsAG | GRCh37 |
| NC_000017.9:g.37022129_37022130delinsAG | NCBI36 |
| NG_008301.1:g.5476_5477delinsCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301653.9:c.337_338delinsCT MANE Select | ENSP00000301653.3:p.Leu113= | |
| ENST00000301653.8:c.337_338delinsCT | ENSP00000301653.3:p.Leu113= | |
| ENST00000588319.1:n.414_415delinsCT | ||
| ENST00000593067.1:c.-312-66_-312-65delinsCT | ENSP00000467124.1:n.-312-66_-312-65delinsCT | |
| NM_005557.3:c.337_338delinsCT | NP_005548.2:p.Leu113= | |
| NM_005557.4:c.337_338delinsCT MANE Select | NP_005548.2:p.Leu113= |