Linked Data
ClinVar Variation Id:
331711
dbSNP Id:
rs1553563943
gnomAD v2:
2-166150547-AAG-A
gnomAD v3:
2-165294037-AAG-A
gnomAD v4:
2-165294037-AAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.165294039_165294040del , CM000664.2:g.165294039_165294040del | GRCh38 |
| NC_000002.11:g.166150549_166150550del , CM000664.1:g.166150549_166150550del | GRCh37 |
| NC_000002.10:g.165858795_165858796del | NCBI36 |
| NG_008143.1:g.59638_59639del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000631182.3:c.-51-1734_-51-1733del MANE Plus Clinical | ENSP00000486885.1:n.-51-1734_-51-1733del | |
| ENST00000375437.7:c.-51-1734_-51-1733del MANE Select | ENSP00000364586.2:n.-51-1734_-51-1733del | |
| ENST00000635945.1:n.313-1734_313-1733del | ||
| ENST00000636071.2:c.-51-1734_-51-1733del | ENSP00000490107.1:n.-51-1734_-51-1733del | |
| ENST00000636135.1:c.-51-1734_-51-1733del | ENSP00000489821.1:n.-51-1734_-51-1733del | |
| ENST00000636384.2:c.-51-1734_-51-1733del | ENSP00000490765.1:n.-51-1734_-51-1733del | |
| ENST00000636662.2:c.-148_-147del | ENSP00000489873.1:n.-148_-147del | |
| ENST00000636985.2:c.-552-1841_-552-1840del | ENSP00000490849.1:n.-552-1841_-552-1840del | |
| ENST00000637266.2:c.-51-1734_-51-1733del | ENSP00000490866.1:n.-51-1734_-51-1733del | |
| ENST00000637367.1:c.-51-1734_-51-1733del | ENSP00000490592.1:n.-51-1734_-51-1733del | |
| ENST00000638151.1:n.141-1841_141-1840del | ||
| ENST00000283256.10:c.-148_-147del | ENSP00000283256.6:n.-148_-147del | |
| ENST00000375437.6:c.-51-1734_-51-1733del | ENSP00000364586.2:n.-51-1734_-51-1733del | |
| ENST00000424833.5:c.-51-1734_-51-1733del | ENSP00000406454.2:n.-51-1734_-51-1733del | |
| ENST00000631182.2:c.-51-1734_-51-1733del | ENSP00000486885.1:n.-51-1734_-51-1733del | |
| NM_001040142.1:c.-51-1734_-51-1733del | NP_001035232.1:n.-51-1734_-51-1733del | |
| NM_021007.2:c.-148_-147del | NP_066287.2:n.-148_-147del | |
| XM_005246750.2:c.-51-1734_-51-1733del | XP_005246807.1:n.-51-1734_-51-1733del | |
| XM_005246753.2:c.-51-1734_-51-1733del | XP_005246810.1:n.-51-1734_-51-1733del | |
| XM_005246754.3:c.27-1841_27-1840del | XP_005246811.1:n.27-1841_27-1840del | |
| XM_011511608.1:c.-51-1734_-51-1733del | XP_011509910.1:n.-51-1734_-51-1733del | |
| XM_011511609.1:c.-51-1734_-51-1733del | XP_011509911.1:n.-51-1734_-51-1733del | |
| XM_005246753.3:c.-51-1734_-51-1733del | XP_005246810.1:n.-51-1734_-51-1733del | |
| XM_017004656.1:c.-51-1734_-51-1733del | XP_016860145.1:n.-51-1734_-51-1733del | |
| XM_017004657.1:c.-148_-147del | XP_016860146.1:n.-148_-147del | |
| XM_017004658.1:c.-991-1734_-991-1733del | XP_016860147.1:n.-991-1734_-991-1733del | |
| XM_024453037.1:c.-712-1734_-712-1733del | XP_024308805.1:n.-712-1734_-712-1733del | |
| NM_001040142.2:c.-51-1734_-51-1733del MANE Select | NP_001035232.1:n.-51-1734_-51-1733del | |
| NM_001040143.2:c.-51-1734_-51-1733del | NP_001035233.1:n.-51-1734_-51-1733del | |
| NM_001371246.1:c.-51-1734_-51-1733del MANE Plus Clinical | NP_001358175.1:n.-51-1734_-51-1733del | |
| NM_001371247.1:c.-51-1734_-51-1733del | NP_001358176.1:n.-51-1734_-51-1733del |