Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.76991998_76991999delinsAG , CM000675.2:g.76991998_76991999delinsAG | GRCh38 |
| NC_000013.10:g.77566133_77566134delinsAG , CM000675.1:g.77566133_77566134delinsAG | GRCh37 |
| NC_000013.9:g.76464134_76464135delinsAG | NCBI36 |
| NG_009064.1:g.5075_5076delinsAG , LRG_692:g.5075_5076delinsAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636183.2:c.-101_-100delinsAG | ENSP00000490181.2:n.-101_-100delinsAG | |
| ENST00000377453.7:c.47_48delinsAG | ENSP00000366673.3:p.Gln16= | |
| NM_006493.2:c.47_48delinsAG , LRG_692t1:c.47_48delinsAG | NP_006484.1:p.Gln16= | |
| XM_011534917.1:c.47_48delinsAG | XP_011533219.1:p.Gln16= |