ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67785211del , CM000676.2:g.67785211del | GRCh38 |
| NC_000014.8:g.68251928del , CM000676.1:g.68251928del | GRCh37 |
| NC_000014.7:g.67321681del | NCBI36 |
| NG_011836.1:g.36381del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347230.9:c.3373del MANE Select | ENSP00000251119.5:p.His1125ThrfsTer? | |
| ENST00000676512.1:c.3373del | ENSP00000504552.1:p.His1125ThrfsTer? | |
| ENST00000676620.1:c.3373del | ENSP00000504587.1:p.His1125ThrfsTer? | |
| ENST00000678386.1:c.3373del | ENSP00000503677.1:p.His1125ThrfsTer? | |
| ENST00000347230.8:c.3373del | ENSP00000251119.5:p.His1125ThrfsTer? | |
| ENST00000554523.5:n.3510del | ||
| ENST00000554557.5:c.*1670del | ENSP00000450431.1:n.*1670del | |
| ENST00000555452.1:c.3373del | ENSP00000450603.1:p.His1125ThrfsTer? | |
| NM_015346.3:c.3373del | NP_056161.2:p.His1125ThrfsTer? | |
| XM_006720093.2:c.3373del | XP_006720156.1:p.His1125ThrfsTer? | |
| XM_011536606.1:c.1864del | XP_011534908.1:p.His622ThrfsTer? | |
| XM_011536607.1:c.1048del | XP_011534909.1:p.His350ThrfsTer? | |
| XM_011536608.1:c.955del | XP_011534910.1:p.His319ThrfsTer? | |
| XM_011536609.1:c.3373del | XP_011534911.1:p.His1125ThrfsTer? | |
| XM_011536609.2:c.3373del | XP_011534911.1:p.His1125ThrfsTer? | |
| XM_017021124.1:c.3373del | XP_016876613.1:p.His1125ThrfsTer? | |
| XM_017021125.1:c.3373del | XP_016876614.1:p.His1125ThrfsTer? | |
| XM_017021126.1:c.1864del | XP_016876615.1:p.His622ThrfsTer? | |
| XM_017021127.2:c.1048del | XP_016876616.1:p.His350ThrfsTer? | |
| XM_017021128.1:c.955del | XP_016876617.1:p.His319ThrfsTer? | |
| NM_015346.4:c.3373del MANE Select | NP_056161.2:p.His1125ThrfsTer? |