Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3083169_3083170delinsAG , CM000682.2:g.3083169_3083170delinsAG | GRCh38 |
| NC_000020.10:g.3063815_3063816delinsAG , CM000682.1:g.3063815_3063816delinsAG | GRCh37 |
| NC_000020.9:g.3011815_3011816delinsAG | NCBI36 |
| NG_008663.1:g.6555_6556delinsCT , LRG_715:g.6555_6556delinsCT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380293.3:c.129_130delinsCT MANE Select | ENSP00000369647.3:p.Pro43= | |
| NM_000490.4:c.129_130delinsCT , LRG_715t1:c.129_130delinsCT | NP_000481.2:p.Pro43= | |
| XM_011529267.1:c.129_130delinsCT | XP_011527569.1:p.Pro43= | |
| XM_011529267.2:c.129_130delinsCT | XP_011527569.1:p.Pro43= | |
| NM_000490.5:c.129_130delinsCT MANE Select | NP_000481.2:p.Pro43= |