Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013664_25013665insTGC , CM000685.2:g.25013664_25013665insTGC | GRCh38 |
| NC_000023.10:g.25031781_25031782insTGC , CM000685.1:g.25031781_25031782insTGC | GRCh37 |
| NC_000023.9:g.24941702_24941703insTGC | NCBI36 |
| NG_008281.1:g.7286_7287insAGC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379044.5:c.332_333insAGC MANE Select | ENSP00000368332.4:p.Ala111_Ala112insAla | |
| ENST00000379044.4:c.332_333insAGC | ENSP00000368332.4:p.Ala111_Ala112insAla | |
| NM_139058.2:c.332_333insAGC | NP_620689.1:p.Ala111_Ala112insAla | |
| NM_139058.3:c.332_333insAGC MANE Select | NP_620689.1:p.Ala111_Ala112insAla |