Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47332156_47332157delinsAG , CM000673.2:g.47332156_47332157delinsAG | GRCh38 |
| NC_000011.9:g.47353707_47353708delinsAG , CM000673.1:g.47353707_47353708delinsAG | GRCh37 |
| NC_000011.8:g.47310283_47310284delinsAG | NCBI36 |
| NG_007667.1:g.25546_25547delinsCT , LRG_386:g.25546_25547delinsCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.3729_3730delinsCT MANE Select | ENSP00000442795.1:p.Pro1243= | |
| ENST00000256993.8:c.3729_3730delinsCT | ENSP00000256993.5:p.Pro1243= | |
| ENST00000399249.6:c.3729_3730delinsCT | ENSP00000382193.2:p.Pro1243= | |
| ENST00000545968.5:c.3729_3730delinsCT | ENSP00000442795.1:p.Pro1243= | |
| NM_000256.3:c.3729_3730delinsCT , LRG_386t1:c.3729_3730delinsCT MANE Select | NP_000247.2:p.Pro1243= | |
| XM_011520117.1:c.3711_3712delinsCT | XP_011518419.1:p.Pro1237= | |
| XM_011520118.1:c.3648_3649delinsCT | XP_011518420.1:p.Pro1216= |