Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47286389_47286393delinsCTTTG , CM000679.2:g.47286389_47286393delinsCTTTG | GRCh38 |
| NC_000017.10:g.45363755_45363759delinsCTTTG , CM000679.1:g.45363755_45363759delinsCTTTG | GRCh37 |
| NC_000017.9:g.42718754_42718758delinsCTTTG | NCBI36 |
| NG_008332.2:g.37548_37552delinsCTTTG , LRG_481:g.37548_37552delinsCTTTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696963.1:c.744_748delinsCTTTG | ENSP00000513002.1:p.Gly248= | |
| ENST00000559488.7:c.744_748delinsCTTTG MANE Select | ENSP00000452786.2:p.Gly248= | |
| ENST00000559488.5:c.744_748delinsCTTTG | ENSP00000452786.1:p.Gly248= | |
| ENST00000560629.1:c.709_713delinsCTTTG | ||
| ENST00000571680.1:c.744_748delinsCTTTG | ENSP00000461626.1:p.Gly248= | |
| NM_000212.2:c.744_748delinsCTTTG , LRG_481t1:c.744_748delinsCTTTG | NP_000203.2:p.Gly248= | |
| NM_000212.3:c.744_748delinsCTTTG MANE Select | NP_000203.2:p.Gly248= |