Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.64624511_64624512delinsCT , CM000670.2:g.64624511_64624512delinsCT | GRCh38 |
| NC_000008.10:g.65537068_65537069delinsCT , CM000670.1:g.65537068_65537069delinsCT | GRCh37 |
| NC_000008.9:g.65699622_65699623delinsCT | NCBI36 |
| NG_008338.1:g.179280_179281delinsAG | |
| NG_008338.2:g.179280_179281delinsAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310193.4:c.150_151delinsAG MANE Select | ENSP00000310721.3:p.Lys50= | |
| ENST00000310193.3:c.150_151delinsAG | ENSP00000310721.3:p.Lys50= | |
| NM_004820.3:c.150_151delinsAG | NP_004811.1:p.Lys50= | |
| NM_001324112.1:c.150_151delinsAG | NP_001311041.1:p.Lys50= | |
| NM_004820.4:c.150_151delinsAG | NP_004811.1:p.Lys50= | |
| XM_017014002.1:c.216_217delinsAG | XP_016869491.1:p.Lys72= | |
| NM_004820.5:c.150_151delinsAG MANE Select | NP_004811.1:p.Lys50= | |
| NM_001324112.2:c.150_151delinsAG | NP_001311041.1:p.Lys50= |