Linked Data
ClinVar Variation Id:
97809
ClinVar RCV Id:
RCV000084062
dbSNP Id:
rs104895417
ExAC:
15:77323650 G / GGT
gnomAD v2:
15-77323650-G-GGT
gnomAD v3:
15-77031309-G-GGT
gnomAD v4:
15-77031309-G-GGT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.77031310_77031311dup , CM000677.2:g.77031310_77031311dup | GRCh38 |
| NC_000015.9:g.77323651_77323652dup , CM000677.1:g.77323651_77323652dup | GRCh37 |
| NC_000015.8:g.75110706_75110707dup | NCBI36 |
| NG_007526.1:g.41187_41188dup , LRG_172:g.41187_41188dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697622.1:n.453_454dup | ||
| ENST00000697623.1:n.1173_1174dup | ||
| ENST00000558012.6:c.741+32_741+33dup MANE Select | ENSP00000452746.1:n.741+32_741+33dup | |
| ENST00000379595.7:c.741+32_741+33dup | ENSP00000368914.3:n.741+32_741+33dup | |
| ENST00000557995.1:n.405+32_405+33dup | ||
| ENST00000558012.5:c.741+32_741+33dup | ENSP00000452746.1:n.741+32_741+33dup | |
| ENST00000559295.5:c.741+32_741+33dup | ENSP00000452743.1:n.741+32_741+33dup | |
| ENST00000559750.5:c.*414_*415dup | ENSP00000453531.1:n.*414_*415dup | |
| ENST00000559785.5:c.936+32_936+33dup | ENSP00000452986.1:n.936+32_936+33dup | |
| ENST00000559856.1:c.660+32_660+33dup | ENSP00000453382.1:n.660+32_660+33dup | |
| ENST00000560223.5:c.*843+32_*843+33dup | ENSP00000454118.1:n.*843+32_*843+33dup | |
| ENST00000560377.5:n.982+32_982+33dup | ||
| ENST00000561315.5:n.546_547dup | ||
| NM_003978.3:c.741+32_741+33dup , LRG_172t1:c.741+32_741+33dup | NP_003969.2:n.741+32_741+33dup | |
| XM_006720737.2:c.375+32_375+33dup | XP_006720800.1:n.375+32_375+33dup | |
| XM_011522163.1:c.798+32_798+33dup | XP_011520465.1:n.798+32_798+33dup | |
| XM_011522164.1:c.696+32_696+33dup | XP_011520466.1:n.696+32_696+33dup | |
| XM_011522165.1:c.594+32_594+33dup | XP_011520467.1:n.594+32_594+33dup | |
| XM_011522166.1:c.798+32_798+33dup | XP_011520468.1:n.798+32_798+33dup | |
| XM_011522167.1:c.798+32_798+33dup | XP_011520469.1:n.798+32_798+33dup | |
| XM_011522168.1:c.798+32_798+33dup | XP_011520470.1:n.798+32_798+33dup | |
| XM_011522169.1:c.798+32_798+33dup | XP_011520471.1:n.798+32_798+33dup | |
| XM_011522170.1:c.371+1736_371+1737dup | XP_011520472.1:n.371+1736_371+1737dup | |
| XM_011522171.1:c.311+1736_311+1737dup | XP_011520473.1:n.311+1736_311+1737dup | |
| XM_011522172.1:c.311+1736_311+1737dup | XP_011520474.1:n.311+1736_311+1737dup | |
| XM_011522173.1:c.311+1736_311+1737dup | XP_011520475.1:n.311+1736_311+1737dup | |
| XR_931936.1:n.1248+32_1248+33dup | ||
| XR_931937.1:n.1191+32_1191+33dup | ||
| XR_931938.1:n.1248+32_1248+33dup | ||
| XR_931939.1:n.1248+32_1248+33dup | ||
| XR_931940.1:n.1069+1736_1069+1737dup | ||
| NM_001321135.1:c.741+32_741+33dup | NP_001308064.1:n.741+32_741+33dup | |
| NM_001321136.1:c.714+32_714+33dup | NP_001308065.1:n.714+32_714+33dup | |
| NM_001321137.1:c.936+32_936+33dup | NP_001308066.1:n.936+32_936+33dup | |
| NM_003978.4:c.741+32_741+33dup | NP_003969.2:n.741+32_741+33dup | |
| NR_135552.1:n.1150+32_1150+33dup | ||
| XM_006720737.3:c.375+32_375+33dup | XP_006720800.1:n.375+32_375+33dup | |
| XM_011522163.2:c.798+32_798+33dup | XP_011520465.1:n.798+32_798+33dup | |
| XM_011522165.2:c.594+32_594+33dup | XP_011520467.1:n.594+32_594+33dup | |
| XM_011522166.2:c.798+32_798+33dup | XP_011520468.1:n.798+32_798+33dup | |
| XM_011522167.2:c.798+32_798+33dup | XP_011520469.1:n.798+32_798+33dup | |
| XM_011522168.3:c.798+32_798+33dup | XP_011520470.1:n.798+32_798+33dup | |
| XM_011522169.2:c.798+32_798+33dup | XP_011520471.1:n.798+32_798+33dup | |
| XR_931936.2:n.1246+32_1246+33dup | ||
| XR_931937.2:n.1189+32_1189+33dup | ||
| XR_931938.2:n.1246+32_1246+33dup | ||
| XR_931939.2:n.1246+32_1246+33dup | ||
| NM_001321135.2:c.741+32_741+33dup | NP_001308064.1:n.741+32_741+33dup | |
| NM_001321136.2:c.714+32_714+33dup | NP_001308065.1:n.714+32_714+33dup | |
| NM_003978.5:c.741+32_741+33dup MANE Select | NP_003969.2:n.741+32_741+33dup | |
| NR_135552.2:n.1109+32_1109+33dup |