Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129529213_129529214insACC , CM000665.2:g.129529213_129529214insACC | GRCh38 |
| NC_000003.11:g.129248056_129248057insACC , CM000665.1:g.129248056_129248057insACC | GRCh37 |
| NC_000003.10:g.130730746_130730747insACC | NCBI36 |
| NG_009115.1:g.5575_5576insACC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.361+119_361+120insACC MANE Select | ENSP00000296271.3:n.361+119_361+120insACC | |
| ENST00000296271.3:c.361+119_361+120insACC | ENSP00000296271.3:n.361+119_361+120insACC | |
| NM_000539.3:c.361+119_361+120insACC MANE Select | NP_000530.1:n.361+119_361+120insACC |