Linked Data
ClinVar Variation Id:
128170
dbSNP Id:
rs587780236
ExAC:
17:59820479 T / TA
gnomAD v2:
17-59820479-T-TA
gnomAD v3:
17-61743118-T-TA
gnomAD v4:
17-61743118-T-TA
MyVariant Identifiers:
chr17:g.59820480dupA (hg19)
chr17:g.59820479_59820480insA (hg19)
chr17:g.61743119dupA (hg38)
chr17:g.61743118_61743119insA (hg38)
PubMed:
PMID:26681312
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61743119dup , CM000679.2:g.61743119dup | GRCh38 |
| NC_000017.10:g.59820480dup , CM000679.1:g.59820480dup | GRCh37 |
| NC_000017.9:g.57175262dup | NCBI36 |
| NG_007409.2:g.125441dup , LRG_300:g.125441dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000584322.2:c.2273dup | ENSP00000463272.2:p.Ala759SerfsTer6 | |
| ENST00000682066.1:c.2403dup | ENSP00000507191.1:n.2403dup | |
| ENST00000682073.1:n.1013dup | ||
| ENST00000682433.1:n.1352dup | ||
| ENST00000682453.1:c.2273dup | ENSP00000506943.1:p.Ala759SerfsTer6 | |
| ENST00000682477.1:c.*1699dup | ENSP00000507075.1:n.*1699dup | |
| ENST00000682589.1:n.8150dup | ||
| ENST00000682755.1:c.2051dup | ENSP00000507660.1:p.Ala685SerfsTer6 | |
| ENST00000682989.1:c.2273dup | ENSP00000507786.1:p.Ala759SerfsTer6 | |
| ENST00000683039.1:c.2273dup | ENSP00000508303.1:p.Ala759SerfsTer6 | |
| ENST00000683235.1:c.2273dup | ENSP00000507646.1:p.Ala759SerfsTer6 | |
| ENST00000683381.1:c.2333dup | ENSP00000508184.1:p.Ala779SerfsTer6 | |
| ENST00000683535.1:n.403dup | ||
| ENST00000684471.1:n.686dup | ||
| ENST00000684584.1:c.1766dup | ENSP00000508044.1:p.Ala590SerfsTer6 | |
| ENST00000684769.1:c.338dup | ENSP00000507691.1:p.Ala114SerfsTer6 | |
| ENST00000259008.7:c.2273dup MANE Select | ENSP00000259008.2:p.Ala759SerfsTer6 | |
| ENST00000259008.6:c.2273dup | ENSP00000259008.2:p.Ala759SerfsTer6 | |
| ENST00000577598.5:c.2273dup | ENSP00000464654.1:p.Ala759SerfsTer6 | |
| ENST00000584322.1:c.256dup | ||
| NM_032043.2:c.2273dup , LRG_300t1:c.2273dup | NP_114432.2:p.Ala759SerfsTer6 | |
| XM_011525332.1:c.2333dup | XP_011523634.1:p.Ala779SerfsTer6 | |
| XM_011525333.1:c.2333dup | XP_011523635.1:p.Ala779SerfsTer6 | |
| XM_011525334.1:c.2333dup | XP_011523636.1:p.Ala779SerfsTer6 | |
| XM_011525335.1:c.2273dup | XP_011523637.1:p.Ala759SerfsTer6 | |
| XM_011525336.1:c.2213dup | XP_011523638.1:p.Ala739SerfsTer6 | |
| XM_011525337.1:c.2132dup | XP_011523639.1:p.Ala712SerfsTer6 | |
| XM_011525338.1:c.1850dup | XP_011523640.1:p.Ala618SerfsTer6 | |
| XM_011525339.1:c.2333dup | XP_011523641.1:p.Ala779SerfsTer6 | |
| XM_011525340.1:c.2333dup | XP_011523642.1:p.Ala779SerfsTer6 | |
| XR_934894.1:n.524-1062dup | ||
| XM_011525332.3:c.2333dup | XP_011523634.1:p.Ala779SerfsTer6 | |
| XM_011525333.3:c.2333dup | XP_011523635.1:p.Ala779SerfsTer6 | |
| XM_011525334.2:c.2333dup | XP_011523636.1:p.Ala779SerfsTer6 | |
| XM_011525335.3:c.2273dup | XP_011523637.1:p.Ala759SerfsTer6 | |
| XM_011525336.2:c.2213dup | XP_011523638.1:p.Ala739SerfsTer6 | |
| XM_011525337.2:c.2132dup | XP_011523639.1:p.Ala712SerfsTer6 | |
| XM_011525338.2:c.1850dup | XP_011523640.1:p.Ala618SerfsTer6 | |
| XM_011525339.3:c.2333dup | XP_011523641.1:p.Ala779SerfsTer6 | |
| XM_011525340.3:c.2333dup | XP_011523642.1:p.Ala779SerfsTer6 | |
| XM_017025200.1:c.1790dup | XP_016880689.1:p.Ala598SerfsTer6 | |
| XM_017025201.1:c.1790dup | XP_016880690.1:p.Ala598SerfsTer6 | |
| XM_017025202.1:c.419dup | XP_016880691.1:p.Ala141SerfsTer6 | |
| XM_017025203.1:c.419dup | XP_016880692.1:p.Ala141SerfsTer6 | |
| NM_032043.3:c.2273dup MANE Select | NP_114432.2:p.Ala759SerfsTer6 |