Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48419692_48419693insCCAAACACACCCAAC , CM000681.2:g.48419692_48419693insCCAAACACACCCAAC | GRCh38 |
| NC_000019.9:g.48922949_48922950insCCAAACACACCCAAC , CM000681.1:g.48922949_48922950insCCAAACACACCCAAC | GRCh37 |
| NC_000019.8:g.53614761_53614762insCCAAACACACCCAAC | NCBI36 |
| NG_052829.1:g.29818_29819insCCAAACACACCCAAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263269.4:c.1969_1970insCCAAACACACCCAAC MANE Select | ENSP00000263269.2:p.Ile657delinsThrLysHisThrGlnLeu | |
| ENST00000263269.3:c.1969_1970insCCAAACACACCCAAC | ENSP00000263269.2:p.Ile657delinsThrLysHisThrGlnLeu | |
| NM_000836.2:c.1969_1970insCCAAACACACCCAAC | NP_000827.2:p.Ile657delinsThrLysHisThrGlnLeu | |
| XM_011526872.1:c.1969_1970insCCAAACACACCCAAC | XP_011525174.1:p.Ile657delinsThrLysHisThrGlnLeu | |
| NM_000836.4:c.1969_1970insCCAAACACACCCAAC MANE Select | NP_000827.2:p.Ile657delinsThrLysHisThrGlnLeu |