Linked Data
ClinVar Variation Id:
1563437
ClinVar RCV Id:
RCV002216386
dbSNP Id:
rs766211313
ExAC:
9:94830234 TAA / T
gnomAD v2:
9-94830234-TAA-T
gnomAD v3:
9-92067952-TAA-T
gnomAD v4:
9-92067952-TAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.92067954_92067955del , CM000671.2:g.92067954_92067955del | GRCh38 |
| NC_000009.11:g.94830236_94830237del , CM000671.1:g.94830236_94830237del | GRCh37 |
| NC_000009.10:g.93870057_93870058del | NCBI36 |
| NG_007950.1:g.52455_52456del , LRG_272:g.52455_52456del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000482632.6:n.970+12_970+13del | ||
| ENST00000686600.1:c.560+12_560+13del | ENSP00000509268.1:n.560+12_560+13del | |
| ENST00000686799.1:n.657+12_657+13del | ||
| ENST00000687427.1:c.560+12_560+13del | ENSP00000509426.1:n.560+12_560+13del | |
| ENST00000687817.1:c.*363+12_*363+13del | ENSP00000508926.1:n.*363+12_*363+13del | |
| ENST00000687972.1:c.620+12_620+13del | ENSP00000509208.1:n.620+12_620+13del | |
| ENST00000689261.1:n.467+12_467+13del | ||
| ENST00000689401.1:c.*810+12_*810+13del | ENSP00000510251.1:n.*810+12_*810+13del | |
| ENST00000689423.1:c.*810+12_*810+13del | ENSP00000508519.1:n.*810+12_*810+13del | |
| ENST00000690095.1:n.888+12_888+13del | ||
| ENST00000690139.1:c.*261+12_*261+13del | ENSP00000510483.1:n.*261+12_*261+13del | |
| ENST00000692458.1:n.583+12_583+13del | ||
| ENST00000693147.1:c.*576+12_*576+13del | ENSP00000510358.1:n.*576+12_*576+13del | |
| ENST00000262554.7:c.560+12_560+13del MANE Select | ENSP00000262554.2:n.560+12_560+13del | |
| ENST00000642671.1:c.605+12_605+13del | ENSP00000495764.1:n.605+12_605+13del | |
| ENST00000643599.1:c.432+12_432+13del | ENSP00000494770.1:n.432+12_432+13del | |
| ENST00000644140.1:c.*301+12_*301+13del | ENSP00000493933.1:n.*301+12_*301+13del | |
| ENST00000646481.1:c.432+12_432+13del | ENSP00000496627.1:n.432+12_432+13del | |
| ENST00000646534.1:c.*363+12_*363+13del | ENSP00000495388.1:n.*363+12_*363+13del | |
| ENST00000262554.6:c.560+12_560+13del | ENSP00000262554.2:n.560+12_560+13del | |
| ENST00000482632.5:n.707+12_707+13del | ||
| NM_001281303.1:c.560+12_560+13del | NP_001268232.1:n.560+12_560+13del | |
| NM_006415.3:c.560+12_560+13del | NP_006406.1:n.560+12_560+13del | |
| XM_011518138.1:c.560+12_560+13del | XP_011516440.1:n.560+12_560+13del | |
| XM_011518139.1:c.95+12_95+13del | XP_011516441.1:n.95+12_95+13del | |
| XM_011518138.2:c.560+12_560+13del | XP_011516440.1:n.560+12_560+13del | |
| XM_011518139.3:c.95+12_95+13del | XP_011516441.1:n.95+12_95+13del | |
| XM_017014200.2:c.194+12_194+13del | XP_016869689.1:n.194+12_194+13del | |
| XM_017014201.2:c.194+12_194+13del | XP_016869690.1:n.194+12_194+13del | |
| XM_024447378.1:c.95+12_95+13del | XP_024303146.1:n.95+12_95+13del | |
| XM_024447379.1:c.95+12_95+13del | XP_024303147.1:n.95+12_95+13del | |
| XR_002956744.1:n.710+12_710+13del | ||
| NM_006415.4:c.560+12_560+13del MANE Select | NP_006406.1:n.560+12_560+13del | |
| NM_001281303.2:c.560+12_560+13del | NP_001268232.1:n.560+12_560+13del | |
| NM_001368272.1:c.194+12_194+13del | NP_001355201.1:n.194+12_194+13del | |
| NM_001368273.1:c.95+12_95+13del | NP_001355202.1:n.95+12_95+13del |