Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19570425_19570426insA , CM000686.2:g.19570425_19570426insA | GRCh38 |
| NC_000024.9:g.21732311_21732312insA , CM000686.1:g.21732311_21732312insA | GRCh37 |
| NC_000024.8:g.20191699_20191700insA | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686158.1:n.199+2855_199+2856insA | ||
| ENST00000686905.1:n.133+2943_133+2944insA | ||
| ENST00000693214.1:n.221+2855_221+2856insA | ||
| ENST00000445715.6:n.101+2943_101+2944insA | ||
| ENST00000407724.7:n.170+2943_170+2944insA | ||
| ENST00000445715.5:n.101+2943_101+2944insA | ||
| ENST00000447202.2:n.123+2474_123+2475insA | ||
| ENST00000447520.5:n.101+2943_101+2944insA | ||
| ENST00000459719.6:n.221+2855_221+2856insA | ||
| ENST00000538014.2:n.240+966_240+967insA | ||
| NR_045128.1:n.125+2943_125+2944insA | ||
| NR_045129.1:n.125+2943_125+2944insA |