Linked Data
dbSNP Id:
rs63750407
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5227009_5227014delinsACTTCTCCTCAGGCAGACTTCACCTCAG , CM000673.2:g.5227009_5227014delinsACTTCTCCTCAGGCAGACTTCACCTCAG | GRCh38 |
| NC_000011.9:g.5248239_5248244delinsACTTCTCCTCAGGCAGACTTCACCTCAG , CM000673.1:g.5248239_5248244delinsACTTCTCCTCAGGCAGACTTCACCTCAG | GRCh37 |
| NC_000011.8:g.5204815_5204820delinsACTTCTCCTCAGGCAGACTTCACCTCAG | NCBI36 |
| NG_000007.3:g.70602_70607delinsCTGAGGTGAAGTCTGCCTGAGGAGAAGT | |
| NG_059281.1:g.5058_5063delinsCTGAGGTGAAGTCTGCCTGAGGAGAAGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.8_13delinsCTGAGGTGAAGTCTGCCTGAGGAGAAGT | ENSP00000494175.1:p.His3ProfsTer7 | |
| ENST00000335295.4:c.8_13delinsCTGAGGTGAAGTCTGCCTGAGGAGAAGT MANE Select | ENSP00000333994.3:p.His3ProfsTer7 | |
| ENST00000380315.2:c.8_13delinsCTGAGGTGAAGTCTGCCTGAGGAGAAGT | ENSP00000369671.2:p.His3ProfsTer7 | |
| ENST00000485743.1:n.59_64delinsCTGAGGTGAAGTCTGCCTGAGGAGAAGT | ||
| ENST00000633227.1:c.8_13delinsCTGAGGTGAAGTCTGCCTGAGGAGAAGT | ENSP00000488004.1:p.His3ProfsTer7 | |
| NM_000518.4:c.8_13delinsCTGAGGTGAAGTCTGCCTGAGGAGAAGT | NP_000509.1:p.His3ProfsTer7 | |
| NM_000518.5:c.8_13delinsCTGAGGTGAAGTCTGCCTGAGGAGAAGT MANE Select | NP_000509.1:p.His3ProfsTer7 |