Linked Data
gnomAD v4:
1-201317778-T-TGGTA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201317781_201317784dup , CM000663.2:g.201317781_201317784dup | GRCh38 |
| NC_000001.10:g.201286909_201286912dup , CM000663.1:g.201286909_201286912dup | GRCh37 |
| NC_000001.9:g.199553532_199553535dup | NCBI36 |
| NG_023337.1:g.39330_39333dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367324.8:c.1054+2_1054+5dup | ||
| ENST00000263946.7:c.1054+2_1054+5dup | ||
| ENST00000352845.3:c.1054+2_1054+5dup | ||
| ENST00000367324.7:c.1054+2_1054+5dup | ||
| ENST00000475988.1:n.396+2_396+5dup | ||
| ENST00000622031.4:c.1051+2_1051+5dup | ||
| NM_000299.3:c.1054+2_1054+5dup | ||
| NM_001005337.2:c.1054+2_1054+5dup | ||
| NM_001005337.3:c.1054+2_1054+5dup | ||
| NM_000299.4:c.1054+2_1054+5dup |