Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8016451_8016454dup , CM000679.2:g.8016451_8016454dup | GRCh38 |
| NC_000017.10:g.7919769_7919772dup , CM000679.1:g.7919769_7919772dup | GRCh37 |
| NC_000017.9:g.7860494_7860497dup | NCBI36 |
| NG_009092.1:g.18782_18785dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000180.4:c.3233_3236dup MANE Select | NP_000171.1:p.His1079GlnfsTer? |
| ENST00000254854.5:c.3233_3236dup MANE Select | ENSP00000254854.4:p.His1079GlnfsTer? |
| NM_000180.3:c.3233_3236dup | NP_000171.1:p.His1079GlnfsTer? |
| ENST00000254854.4:c.3233_3236dup | ENSP00000254854.4:p.His1079GlnfsTer? |
| ENST00000574510.1:n.171_174dup | |
| XM_011523816.1:c.3233_3236dup | XP_011522118.1:p.His1079GlnfsTer? |