Linked Data
ClinVar Variation Id:
553669
ClinVar RCV Id:
RCV000669172
dbSNP Id:
rs1476762825
gnomAD v2:
2-228029478-C-CCTGCTGCCG
gnomAD v3:
2-227164762-C-CCTGCTGCCG
gnomAD v4:
2-227164762-C-CCTGCTGCCG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227164765_227164773dup , CM000664.2:g.227164765_227164773dup | GRCh38 |
| NC_000002.11:g.228029481_228029489dup , CM000664.1:g.228029481_228029489dup | GRCh37 |
| NC_000002.10:g.227737725_227737733dup | NCBI36 |
| NG_011591.1:g.5201_5209dup , LRG_230:g.5201_5209dup | |
| NG_011592.1:g.4789_4797dup , LRG_231:g.4789_4797dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396578.8:c.39_47dup MANE Select | ENSP00000379823.3:p.Leu16_Leu17insLeuProLeu | |
| ENST00000396578.7:c.39_47dup | ENSP00000379823.3:p.Leu16_Leu17insLeuProLeu | |
| NM_000091.4:c.39_47dup , LRG_230t1:c.39_47dup | NP_000082.2:p.Leu16_Leu17insLeuProLeu | |
| XM_005246276.2:c.39_47dup | XP_005246333.1:p.Leu16_Leu17insLeuProLeu | |
| XM_005246277.2:c.39_47dup | XP_005246334.1:p.Leu16_Leu17insLeuProLeu | |
| XM_005246280.2:c.39_47dup | XP_005246337.1:p.Leu16_Leu17insLeuProLeu | |
| XM_006712245.2:c.39_47dup | XP_006712308.1:p.Leu16_Leu17insLeuProLeu | |
| XM_011510555.1:c.39_47dup | XP_011508857.1:p.Leu16_Leu17insLeuProLeu | |
| XR_241280.2:n.177_185dup | ||
| XM_005246277.3:c.39_47dup | XP_005246334.1:p.Leu16_Leu17insLeuProLeu | |
| XM_005246280.3:c.39_47dup | XP_005246337.1:p.Leu16_Leu17insLeuProLeu | |
| XM_006712245.3:c.39_47dup | XP_006712308.1:p.Leu16_Leu17insLeuProLeu | |
| XM_017003295.1:c.39_47dup | XP_016858784.1:p.Leu16_Leu17insLeuProLeu | |
| XR_001738601.1:n.177_185dup | ||
| XR_241280.3:n.177_185dup | ||
| NM_000091.5:c.39_47dup MANE Select | NP_000082.2:p.Leu16_Leu17insLeuProLeu |