Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.53196700_53196701delinsTG , CM000663.2:g.53196700_53196701delinsTG | GRCh38 |
| NC_000001.10:g.53662372_53662373delinsTG , CM000663.1:g.53662372_53662373delinsTG | GRCh37 |
| NC_000001.9:g.53434960_53434961delinsTG | NCBI36 |
| NG_008035.1:g.5272_5273delinsTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371486.3:c.-244_-243delinsTG | ENSP00000360541.3:n.-244_-243delinsTG | |
| NM_000098.2:c.-244_-243delinsTG | NP_000089.1:n.-244_-243delinsTG | |
| NM_001330589.1:c.-244_-243delinsTG | NP_001317518.1:n.-244_-243delinsTG |