Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.114044172_114044173insCGAGACC , CM000672.2:g.114044172_114044173insCGAGACC | GRCh38 |
| NC_000010.10:g.115803931_115803932insCGAGACC , CM000672.1:g.115803931_115803932insCGAGACC | GRCh37 |
| NC_000010.9:g.115793921_115793922insCGAGACC | NCBI36 |
| NG_012187.1:g.5126_5127insCGAGACC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369295.4:c.40_41insCGAGACC MANE Select | ENSP00000358301.2:p.Gly14AlafsTer4 | |
| ENST00000369295.3:c.40_41insCGAGACC | ENSP00000358301.2:p.Gly14AlafsTer4 | |
| NM_000684.2:c.40_41insCGAGACC | NP_000675.1:p.Gly14AlafsTer4 | |
| NM_000684.3:c.40_41insCGAGACC MANE Select | NP_000675.1:p.Gly14AlafsTer4 |