MyVariant.info:
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28767417_28767422dup , CM000676.2:g.28767417_28767422dup | GRCh38 |
| NC_000014.8:g.29236623_29236628dup , CM000676.1:g.29236623_29236628dup | GRCh37 |
| NC_000014.7:g.28306374_28306379dup | NCBI36 |
| NG_009367.1:g.5337_5342dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706482.1:c.138_143dup | ENSP00000516406.1:p.His47_His48insGlnHis | |
| ENST00000313071.7:c.138_143dup MANE Select | ENSP00000339004.3:p.His47_His48insGlnHis | |
| ENST00000313071.6:c.138_143dup | ENSP00000339004.3:p.His47_His48insGlnHis | |
| NM_005249.4:c.138_143dup | NP_005240.3:p.His47_His48insGlnHis | |
| NM_005249.5:c.138_143dup MANE Select | NP_005240.3:p.His47_His48insGlnHis |