Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189564130_189564131delinsAG , CM000664.2:g.189564130_189564131delinsAG | GRCh38 |
| NC_000002.11:g.190428856_190428857delinsAG , CM000664.1:g.190428856_190428857delinsAG | GRCh37 |
| NC_000002.10:g.190137101_190137102delinsAG | NCBI36 |
| NG_009027.1:g.21681_21682delinsCT , LRG_837:g.21681_21682delinsCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261024.7:c.855_856delinsCT MANE Select | ENSP00000261024.3:p.Ala285= | |
| ENST00000261024.6:c.855_856delinsCT | ENSP00000261024.2:p.Ala285= | |
| NM_014585.5:c.855_856delinsCT , LRG_837t1:c.855_856delinsCT | NP_055400.1:p.Ala285= | |
| XM_005246505.1:c.735_736delinsCT | XP_005246562.1:p.Ala245= | |
| XM_005246505.2:c.735_736delinsCT | XP_005246562.1:p.Ala245= | |
| XM_017003938.2:c.735_736delinsCT | XP_016859427.1:p.Ala245= | |
| NM_014585.6:c.855_856delinsCT MANE Select | NP_055400.1:p.Ala285= |