Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118110248_118110249delinsTG , CM000670.2:g.118110248_118110249delinsTG | GRCh38 |
| NC_000008.10:g.119122487_119122488delinsTG , CM000670.1:g.119122487_119122488delinsTG | GRCh37 |
| NC_000008.9:g.119191668_119191669delinsTG | NCBI36 |
| NG_007455.2:g.6571_6572delinsCA , LRG_493:g.6571_6572delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378204.7:c.798_799delinsCA MANE Select | ENSP00000367446.3:p.Phe266= | |
| ENST00000436216.2:c.166_167delinsCA | ||
| ENST00000378204.6:c.798_799delinsCA | ENSP00000367446.2:p.Phe266= | |
| ENST00000436216.1:c.166_167delinsCA | ||
| ENST00000437196.1:c.73+725_73+726delinsCA | ENSP00000407299.1:n.73+725_73+726delinsCA | |
| NM_000127.2:c.798_799delinsCA , LRG_493t1:c.798_799delinsCA | NP_000118.2:p.Phe266= | |
| NM_000127.3:c.798_799delinsCA MANE Select | NP_000118.2:p.Phe266= |