Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8086125_8086126delinsAG , CM000679.2:g.8086125_8086126delinsAG | GRCh38 |
| NC_000017.10:g.7989443_7989444delinsAG , CM000679.1:g.7989443_7989444delinsAG | GRCh37 |
| NC_000017.9:g.7930168_7930169delinsAG | NCBI36 |
| NG_007099.1:g.6578_6579delinsCT | |
| NG_007099.2:g.6591_6592delinsCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647874.1:c.242_243delinsCT MANE Select | ENSP00000497784.1:p.Pro81= | |
| ENST00000319144.4:c.242_243delinsCT | ENSP00000315167.4:p.Pro81= | |
| NM_001139.2:c.242_243delinsCT | NP_001130.1:p.Pro81= | |
| NM_001139.3:c.242_243delinsCT MANE Select | NP_001130.1:p.Pro81= |