Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129531072_129531073insA , CM000665.2:g.129531072_129531073insA | GRCh38 |
| NC_000003.11:g.129249915_129249916insA , CM000665.1:g.129249915_129249916insA | GRCh37 |
| NC_000003.10:g.130732605_130732606insA | NCBI36 |
| NG_009115.1:g.7434_7435insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.530+28_530+29insA MANE Select | ENSP00000296271.3:n.530+28_530+29insA | |
| ENST00000296271.3:c.530+28_530+29insA | ENSP00000296271.3:n.530+28_530+29insA | |
| NM_000539.3:c.530+28_530+29insA MANE Select | NP_000530.1:n.530+28_530+29insA |