Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.223053094_223053095insAC , CM000664.2:g.223053094_223053095insAC | GRCh38 |
| NC_000002.11:g.223917812_223917813insAC , CM000664.1:g.223917812_223917813insAC | GRCh37 |
| NC_000002.10:g.223626056_223626057insAC | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281830.4:c.264_265insAC MANE Select | ENSP00000281830.5:p.Val89ThrfsTer6 | |
| ENST00000281830.3:c.417_418insAC | ENSP00000281830.4:p.Val140ThrfsTer6 | |
| ENST00000488477.2:n.75+820_75+821insAC | ||
| NM_080671.3:c.417_418insAC | NP_542402.3:p.Val140ThrfsTer6 | |
| NM_080671.4:c.264_265insAC MANE Select | NP_542402.4:p.Val89ThrfsTer6 |