Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.74422010_74422011delinsTA , CM000685.2:g.74422010_74422011delinsTA | GRCh38 |
| NC_000023.10:g.73641845_73641846delinsTA , CM000685.1:g.73641845_73641846delinsTA | GRCh37 |
| NC_000023.9:g.73558570_73558571delinsTA | NCBI36 |
| NG_011641.1:g.5761_5762delinsTA | |
| NG_011641.2:g.5761_5762delinsTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000587091.6:c.373_374delinsTA MANE Select | ENSP00000465734.1:p.Tyr125= | |
| ENST00000636771.1:c.119_120delinsTA | ||
| ENST00000587091.5:c.373_374delinsTA | ENSP00000465734.1:p.Tyr125= | |
| NM_006517.4:c.373_374delinsTA | NP_006508.2:p.Tyr125= | |
| XM_005262294.1:c.373_374delinsTA | XP_005262351.1:p.Tyr125= | |
| XM_011531015.1:c.373_374delinsTA | XP_011529317.1:p.Tyr125= | |
| NM_006517.5:c.373_374delinsTA MANE Select | NP_006508.2:p.Tyr125= |