Linked Data
ClinVar Variation Id:
331712
dbSNP Id:
rs886054994
gnomAD v2:
2-166150548-AG-A
gnomAD v3:
2-165294038-AG-A
gnomAD v4:
2-165294038-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.165294039del , CM000664.2:g.165294039del | GRCh38 |
| NC_000002.11:g.166150549del , CM000664.1:g.166150549del | GRCh37 |
| NC_000002.10:g.165858795del | NCBI36 |
| NG_008143.1:g.59638del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000631182.3:c.-51-1734del MANE Plus Clinical | ENSP00000486885.1:n.-51-1734del | |
| ENST00000375437.7:c.-51-1734del MANE Select | ENSP00000364586.2:n.-51-1734del | |
| ENST00000635945.1:n.313-1734del | ||
| ENST00000636071.2:c.-51-1734del | ENSP00000490107.1:n.-51-1734del | |
| ENST00000636135.1:c.-51-1734del | ENSP00000489821.1:n.-51-1734del | |
| ENST00000636384.2:c.-51-1734del | ENSP00000490765.1:n.-51-1734del | |
| ENST00000636662.2:c.-148del | ENSP00000489873.1:n.-148del | |
| ENST00000636985.2:c.-552-1841del | ENSP00000490849.1:n.-552-1841del | |
| ENST00000637266.2:c.-51-1734del | ENSP00000490866.1:n.-51-1734del | |
| ENST00000637367.1:c.-51-1734del | ENSP00000490592.1:n.-51-1734del | |
| ENST00000638151.1:n.141-1841del | ||
| ENST00000283256.10:c.-148del | ENSP00000283256.6:n.-148del | |
| ENST00000375437.6:c.-51-1734del | ENSP00000364586.2:n.-51-1734del | |
| ENST00000424833.5:c.-51-1734del | ENSP00000406454.2:n.-51-1734del | |
| ENST00000631182.2:c.-51-1734del | ENSP00000486885.1:n.-51-1734del | |
| NM_001040142.1:c.-51-1734del | NP_001035232.1:n.-51-1734del | |
| NM_021007.2:c.-148del | NP_066287.2:n.-148del | |
| XM_005246750.2:c.-51-1734del | XP_005246807.1:n.-51-1734del | |
| XM_005246753.2:c.-51-1734del | XP_005246810.1:n.-51-1734del | |
| XM_005246754.3:c.27-1841del | XP_005246811.1:n.27-1841del | |
| XM_011511608.1:c.-51-1734del | XP_011509910.1:n.-51-1734del | |
| XM_011511609.1:c.-51-1734del | XP_011509911.1:n.-51-1734del | |
| XM_005246753.3:c.-51-1734del | XP_005246810.1:n.-51-1734del | |
| XM_017004656.1:c.-51-1734del | XP_016860145.1:n.-51-1734del | |
| XM_017004657.1:c.-148del | XP_016860146.1:n.-148del | |
| XM_017004658.1:c.-991-1734del | XP_016860147.1:n.-991-1734del | |
| XM_024453037.1:c.-712-1734del | XP_024308805.1:n.-712-1734del | |
| NM_001040142.2:c.-51-1734del MANE Select | NP_001035232.1:n.-51-1734del | |
| NM_001040143.2:c.-51-1734del | NP_001035233.1:n.-51-1734del | |
| NM_001371246.1:c.-51-1734del MANE Plus Clinical | NP_001358175.1:n.-51-1734del | |
| NM_001371247.1:c.-51-1734del | NP_001358176.1:n.-51-1734del |