Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86671083_86671084delinsCG , CM000670.2:g.86671083_86671084delinsCG | GRCh38 |
| NC_000008.10:g.87683311_87683312delinsCG , CM000670.1:g.87683311_87683312delinsCG | GRCh37 |
| NC_000008.9:g.87752427_87752428delinsCG | NCBI36 |
| NG_016980.1:g.77592_77593delinsCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.353_354delinsCG MANE Select | ENSP00000316605.5:p.Pro118= | |
| ENST00000680314.1:n.114_115delinsCG | ||
| ENST00000681746.1:c.353_354delinsCG | ENSP00000505959.1:p.Pro118= | |
| ENST00000320005.5:c.353_354delinsCG | ENSP00000316605.5:p.Pro118= | |
| NM_019098.4:c.353_354delinsCG | NP_061971.3:p.Pro118= | |
| XM_011517138.1:c.-62_-61delinsCG | XP_011515440.1:n.-62_-61delinsCG | |
| XM_011517138.2:c.-62_-61delinsCG | XP_011515440.1:n.-62_-61delinsCG | |
| NM_019098.5:c.353_354delinsCG MANE Select | NP_061971.3:p.Pro118= |