Linked Data
ClinVar Variation Id:
17945
ClinVar RCV Id:
RCV000019541
dbSNP Id:
rs587776854
MyVariant Identifiers:
chr6:g.137528193_137528196dupGTAA (hg19)
chr6:g.137207056_137207059dupGTAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.137207056_137207059dup , CM000668.2:g.137207056_137207059dup | GRCh38 |
| NC_000006.11:g.137528193_137528196dup , CM000668.1:g.137528193_137528196dup | GRCh37 |
| NC_000006.10:g.137569886_137569889dup | NCBI36 |
| NG_007394.1:g.17372_17375dup , LRG_66:g.17372_17375dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000414770.6:c.74_77dup | ENSP00000394230.2:p.Ile27TyrfsTer3 | |
| ENST00000458076.6:c.104_107dup | ENSP00000389249.2:p.Ile37TyrfsTer3 | |
| ENST00000696693.1:c.-20_-17dup | ENSP00000512814.1:n.-20_-17dup | |
| ENST00000696694.1:c.104_107dup | ENSP00000512815.1:p.Ile37TyrfsTer3 | |
| ENST00000696695.1:c.104_107dup | ENSP00000512816.1:p.Ile37TyrfsTer3 | |
| ENST00000696696.1:c.*3_*6dup | ENSP00000512817.1:n.*3_*6dup | |
| ENST00000696697.1:c.50_53dup | ENSP00000512818.1:p.Ile19TyrfsTer3 | |
| ENST00000696698.1:c.104_107dup | ENSP00000512819.1:p.Ile37TyrfsTer3 | |
| ENST00000696699.1:c.20_23dup | ENSP00000512820.1:p.Ile9TyrfsTer3 | |
| ENST00000367739.9:c.104_107dup MANE Select | ENSP00000356713.5:p.Ile37TyrfsTer3 | |
| ENST00000642390.1:c.47_50dup | ENSP00000496468.1:p.Ile18TyrfsTer3 | |
| ENST00000643119.1:c.224_227dup | ENSP00000495934.1:n.224_227dup | |
| ENST00000644894.1:c.-20_-17dup | ENSP00000495272.1:n.-20_-17dup | |
| ENST00000645045.1:c.213_216dup | ||
| ENST00000645753.1:c.-20_-17dup | ENSP00000495103.1:n.-20_-17dup | |
| ENST00000646036.1:c.74_77dup | ENSP00000496387.1:p.Ile27TyrfsTer3 | |
| ENST00000646898.1:c.74_77dup | ENSP00000494069.1:p.Ile27TyrfsTer3 | |
| ENST00000647124.1:c.-20_-17dup | ENSP00000496549.1:n.-20_-17dup | |
| ENST00000367739.8:c.104_107dup | ENSP00000356713.4:p.Ile37TyrfsTer3 | |
| ENST00000414770.5:c.74_77dup | ENSP00000394230.1:p.Ile27TyrfsTer3 | |
| ENST00000458076.5:c.104_107dup | ENSP00000389249.1:p.Ile37TyrfsTer3 | |
| ENST00000478333.1:n.226_229dup | ||
| ENST00000543628.5:c.104_107dup | ENSP00000443282.2:p.Ile37TyrfsTer3 | |
| NM_000416.2:c.104_107dup , LRG_66t1:c.104_107dup | NP_000407.1:p.Ile37TyrfsTer3 | |
| XM_006715470.2:c.74_77dup | XP_006715533.1:p.Ile27TyrfsTer3 | |
| XM_006715471.2:c.-20_-17dup | XP_006715534.1:n.-20_-17dup | |
| XM_011535793.1:c.74_77dup | XP_011534095.1:p.Ile27TyrfsTer3 | |
| XM_011535794.1:c.74_77dup | XP_011534096.1:p.Ile27TyrfsTer3 | |
| NM_001363526.1:c.74_77dup | NP_001350455.1:p.Ile27TyrfsTer3 | |
| NM_001363527.1:c.-20_-17dup | NP_001350456.1:n.-20_-17dup | |
| XM_006715470.3:c.74_77dup | XP_006715533.1:p.Ile27TyrfsTer3 | |
| XM_011535793.2:c.74_77dup | XP_011534095.1:p.Ile27TyrfsTer3 | |
| NM_000416.3:c.104_107dup MANE Select | NP_000407.1:p.Ile37TyrfsTer3 |