Linked Data
ClinVar Variation Id:
194783
ClinVar RCV Id:
RCV000824728
dbSNP Id:
rs761464076
gnomAD v2:
9-138662119-C-CCCCTGGCCCCG
gnomAD v3:
9-135770273-C-CCCCTGGCCCCG
gnomAD v4:
9-135770273-C-CCCCTGGCCCCG
MyVariant Identifiers:
chr9:g.138662129_138662139dup (hg19)
chr9:g.138662129_138662139dupCGCCCTGGCCC (hg19)
chr9:g.138662139_138662140insCGCCCTGGCCC (hg19)
chr9:g.138662130_138662131insCCCTGGCCCCG (hg19)
chr9:g.138662119_138662120insCCCTGGCCCCG (hg19)
chr9:g.135770283_135770293dupCGCCCTGGCCC (hg38)
chr9:g.135770293_135770294insCGCCCTGGCCC (hg38)
chr9:g.135770284_135770285insCCCTGGCCCCG (hg38)
chr9:g.135770273_135770274insCCCTGGCCCCG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.135770283_135770293dup , CM000671.2:g.135770283_135770293dup | GRCh38 |
| NC_000009.11:g.138662129_138662139dup , CM000671.1:g.138662129_138662139dup | GRCh37 |
| NC_000009.10:g.137801950_137801960dup | NCBI36 |
| NG_033070.1:g.73099_73109dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371757.7:c.1620-15_1620-5dup MANE Select | ENSP00000360822.2:n.1620-15_1620-5dup | |
| ENST00000674572.1:c.1461-15_1461-5dup | ENSP00000501742.1:n.1461-15_1461-5dup | |
| ENST00000675090.1:c.1368-15_1368-5dup | ENSP00000501833.1:n.1368-15_1368-5dup | |
| ENST00000675399.1:c.1368-15_1368-5dup | ENSP00000501932.1:n.1368-15_1368-5dup | |
| ENST00000676421.1:c.1377-15_1377-5dup | ENSP00000502322.1:n.1377-15_1377-5dup | |
| ENST00000263604.5:c.1521-15_1521-5dup | ENSP00000263604.4:n.1521-15_1521-5dup | |
| ENST00000371757.6:c.1620-15_1620-5dup | ENSP00000360822.2:n.1620-15_1620-5dup | |
| ENST00000460750.5:c.*1230-15_*1230-5dup | ENSP00000418777.1:n.*1230-15_*1230-5dup | |
| ENST00000486577.6:c.1503-15_1503-5dup | ENSP00000417578.3:n.1503-15_1503-5dup | |
| ENST00000487664.5:c.1620-15_1620-5dup | ENSP00000417851.2:n.1620-15_1620-5dup | |
| ENST00000488444.6:c.1563-15_1563-5dup | ENSP00000419007.3:n.1563-15_1563-5dup | |
| ENST00000490355.6:c.1563-15_1563-5dup | ENSP00000418003.3:n.1563-15_1563-5dup | |
| ENST00000490363.3:n.1439-15_1439-5dup | ||
| ENST00000491806.6:c.1563-15_1563-5dup | ENSP00000419086.3:n.1563-15_1563-5dup | |
| ENST00000628528.2:c.1485-15_1485-5dup | ENSP00000486374.1:n.1485-15_1485-5dup | |
| ENST00000630792.2:c.1461-15_1461-5dup | ENSP00000486486.1:n.1461-15_1461-5dup | |
| ENST00000631073.2:c.1563-15_1563-5dup | ENSP00000486130.1:n.1563-15_1563-5dup | |
| NM_001272003.1:c.1485-15_1485-5dup | NP_001258932.1:n.1485-15_1485-5dup | |
| NM_020822.2:c.1620-15_1620-5dup | NP_065873.2:n.1620-15_1620-5dup | |
| XM_011518877.1:c.1755-15_1755-5dup | XP_011517179.1:n.1755-15_1755-5dup | |
| XM_011518878.1:c.1764-15_1764-5dup | XP_011517180.1:n.1764-15_1764-5dup | |
| XM_011518879.1:c.1755-15_1755-5dup | XP_011517181.1:n.1755-15_1755-5dup | |
| XM_011518880.1:c.1521-15_1521-5dup | XP_011517182.1:n.1521-15_1521-5dup | |
| XM_011518881.1:c.1110-15_1110-5dup | XP_011517183.1:n.1110-15_1110-5dup | |
| XM_011518877.3:c.1755-15_1755-5dup | XP_011517179.1:n.1755-15_1755-5dup | |
| XM_011518878.3:c.1764-15_1764-5dup | XP_011517180.1:n.1764-15_1764-5dup | |
| XM_011518879.3:c.1755-15_1755-5dup | XP_011517181.1:n.1755-15_1755-5dup | |
| XM_011518881.3:c.1110-15_1110-5dup | XP_011517183.1:n.1110-15_1110-5dup | |
| XM_017014931.1:c.1554-15_1554-5dup | XP_016870420.1:n.1554-15_1554-5dup | |
| XM_017014932.1:c.1377-15_1377-5dup | XP_016870421.1:n.1377-15_1377-5dup | |
| XM_017014933.1:c.1110-15_1110-5dup | XP_016870422.1:n.1110-15_1110-5dup | |
| XM_024447617.1:c.1110-15_1110-5dup | XP_024303385.1:n.1110-15_1110-5dup | |
| XM_024447618.1:c.1110-15_1110-5dup | XP_024303386.1:n.1110-15_1110-5dup | |
| NM_020822.3:c.1620-15_1620-5dup MANE Select | NP_065873.2:n.1620-15_1620-5dup | |
| NM_001272003.2:c.1485-15_1485-5dup | NP_001258932.1:n.1485-15_1485-5dup |