Linked Data
ClinVar Variation Id:
94188
ClinVar RCV Id:
RCV000179068
dbSNP Id:
rs398123732
gnomAD v3:
12-49024673-GAATA-G
gnomAD v4:
12-49024673-GAATA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49024678_49024681del , CM000674.2:g.49024678_49024681del | GRCh38 |
| NC_000012.11:g.49418461_49418464del , CM000674.1:g.49418461_49418464del | GRCh37 |
| NC_000012.10:g.47704728_47704731del | NCBI36 |
| NG_027827.1:g.35648_35651del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681974.1:n.625_628del | ||
| ENST00000683543.2:c.15953_15956del | ENSP00000506726.1:p.Leu5318SerfsTer14 | |
| ENST00000683863.1:n.1668_1671del | ||
| ENST00000684428.1:c.488_491del | ENSP00000507433.1:p.Leu163SerfsTer14 | |
| ENST00000684755.1:n.488_491del | ||
| ENST00000685024.1:c.1107_1110del | ||
| ENST00000685166.1:c.15962_15965del | ENSP00000509386.1:p.Leu5321SerfsTer14 | |
| ENST00000688411.1:c.430_433del | ENSP00000510146.1:n.430_433del | |
| ENST00000691932.1:c.32_35del | ENSP00000509037.1:p.Leu11SerfsTer14 | |
| ENST00000692637.1:c.15950_15953del | ENSP00000509666.1:p.Leu5317SerfsTer14 | |
| ENST00000301067.12:c.15953_15956del MANE Select | ENSP00000301067.7:p.Leu5318SerfsTer14 | |
| ENST00000301067.11:c.15953_15956del | ENSP00000301067.7:p.Leu5318SerfsTer14 | |
| NM_003482.3:c.15953_15956del | NP_003473.3:p.Leu5318SerfsTer14 | |
| XM_005269162.3:c.15953_15956del | XP_005269219.1:p.Leu5318SerfsTer14 | |
| XM_006719614.2:c.15962_15965del | XP_006719677.1:p.Leu5321SerfsTer14 | |
| XM_006719616.2:c.15950_15953del | XP_006719679.1:p.Leu5317SerfsTer14 | |
| XM_011538770.1:c.15962_15965del | XP_011537072.1:p.Leu5321SerfsTer14 | |
| XM_011538771.1:c.15959_15962del | XP_011537073.1:p.Leu5320SerfsTer14 | |
| XM_011538772.1:c.15953_15956del | XP_011537074.1:p.Leu5318SerfsTer14 | |
| XM_011538773.1:c.15950_15953del | XP_011537075.1:p.Leu5317SerfsTer14 | |
| XM_011538774.1:c.15941_15944del | XP_011537076.1:p.Leu5314SerfsTer14 | |
| XM_011538775.1:c.15896_15899del | XP_011537077.1:p.Leu5299SerfsTer14 | |
| XM_011538776.1:c.15869_15872del | XP_011537078.1:p.Leu5290SerfsTer14 | |
| XM_005269162.4:c.15953_15956del | XP_005269219.1:p.Leu5318SerfsTer14 | |
| XM_006719614.4:c.15962_15965del | XP_006719677.1:p.Leu5321SerfsTer14 | |
| XM_006719616.3:c.15950_15953del | XP_006719679.1:p.Leu5317SerfsTer14 | |
| XM_011538770.2:c.15962_15965del | XP_011537072.1:p.Leu5321SerfsTer14 | |
| XM_011538771.2:c.15959_15962del | XP_011537073.1:p.Leu5320SerfsTer14 | |
| XM_011538772.2:c.15953_15956del | XP_011537074.1:p.Leu5318SerfsTer14 | |
| XM_011538773.2:c.15950_15953del | XP_011537075.1:p.Leu5317SerfsTer14 | |
| XM_011538774.2:c.15941_15944del | XP_011537076.1:p.Leu5314SerfsTer14 | |
| XM_011538776.2:c.15869_15872del | XP_011537078.1:p.Leu5290SerfsTer14 | |
| XR_001748874.1:n.16130_16133del | ||
| NM_003482.4:c.15953_15956del MANE Select | NP_003473.3:p.Leu5318SerfsTer14 |