HGVS | Genome Assembly |
---|---|
NC_000016.10:g.173510_173522delinsCCTCCCCGCCGAG , CM000678.2:g.173510_173522delinsCCTCCCCGCCGAG | GRCh38 |
NC_000016.9:g.223509_223521delinsCCTCCCCGCCGAG , CM000678.1:g.223509_223521delinsCCTCCCCGCCGAG | GRCh37 |
NC_000016.8:g.163509_163521delinsCCTCCCCGCCGAG | NCBI36 |
NG_000006.1:g.34373_34385delinsCCTCCCCGCCGAG | |
NG_059186.1:g.1860_1872delinsCCTCCCCGCCGAG | |
NG_059271.1:g.5664_5676delinsCCTCCCCGCCGAG |
HGVS | Amino-acid change | |
---|---|---|
ENST00000251595.11:c.339_351delinsCCTCCCCGCCGAG MANE Select | ENSP00000251595.6:p.His113= | |
ENST00000251595.10:c.339_351delinsCCTCCCCGCCGAG | ENSP00000251595.6:p.His113= | |
ENST00000397806.1:c.243_255delinsCCTCCCCGCCGAG | ENSP00000380908.1:p.His81= | |
ENST00000482565.1:n.475_487delinsCCTCCCCGCCGAG | ||
NM_000517.4:c.339_351delinsCCTCCCCGCCGAG | NP_000508.1:p.His113= | |
NM_000517.6:c.339_351delinsCCTCCCCGCCGAG MANE Select | NP_000508.1:p.His113= |