Linked Data
ClinVar Variation Id:
420173
dbSNP Id:
rs1064794327
gnomAD v2:
20-61992468-A-AGCAGCAGCGGCG
gnomAD v3:
20-63361116-A-AGCAGCAGCGGCG
gnomAD v4:
20-63361116-A-AGCAGCAGCGGCG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63361125_63361136dup , CM000682.2:g.63361125_63361136dup | GRCh38 |
| NC_000020.10:g.61992477_61992488dup , CM000682.1:g.61992477_61992488dup | GRCh37 |
| NC_000020.9:g.61462921_61462932dup | NCBI36 |
| NG_011931.1:g.5216_5227dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370263.9:c.38_49dup MANE Select | ENSP00000359285.4:p.Leu16_Leu17insProProLeuLeu | |
| ENST00000675470.1:c.38_49dup | ENSP00000502096.1:p.Leu16_Leu17insProProLeuLeu | |
| ENST00000370263.8:c.38_49dup | ENSP00000359285.4:p.Leu16_Leu17insProProLeuLeu | |
| ENST00000463705.5:n.1032-10101_1032-10090dup | ||
| ENST00000467563.3:n.128+49_128+60dup | ||
| ENST00000615287.4:c.-276_-265dup | ENSP00000483388.1:n.-276_-265dup | |
| ENST00000627000.1:c.38_49dup | ENSP00000486914.1:p.Leu16_Leu17insProProLeuLeu | |
| ENST00000628606.1:n.38_49dup | ||
| ENST00000628665.1:n.63_74dup | ||
| NM_000744.6:c.38_49dup | NP_000735.1:p.Leu16_Leu17insProProLeuLeu | |
| NM_001256573.1:c.-471+49_-471+60dup | NP_001243502.1:n.-471+49_-471+60dup | |
| NR_046317.1:n.269_280dup | ||
| NR_110634.1:n.183-693_183-682dup | ||
| XM_017027625.2:c.-470-1429_-470-1418dup | XP_016883114.1:n.-470-1429_-470-1418dup | |
| NM_001256573.2:c.-471+49_-471+60dup | NP_001243502.1:n.-471+49_-471+60dup | |
| NR_046317.2:n.222_233dup | ||
| NM_000744.7:c.38_49dup MANE Select | NP_000735.1:p.Leu16_Leu17insProProLeuLeu |