Linked Data
dbSNP Id:
rs1562645246
gnomAD v2:
7-22767171-A-ACAGACAGCCACT
MyVariant Identifiers:
chr7:g.22767171_22767172insCAGACAGCCACT (hg19)
chr7:g.22727552_22727553insCAGACAGCCACT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.22727555_22727566dup , CM000669.2:g.22727555_22727566dup | GRCh38 |
| NC_000007.13:g.22767174_22767185dup , CM000669.1:g.22767174_22767185dup | GRCh37 |
| NC_000007.12:g.22733699_22733710dup | NCBI36 |
| NG_011640.1:g.5409_5420dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000464710.2:n.379_390dup (IL6) | ||
| ENST00000258743.10:c.131_142dup (IL6) MANE Select | ENSP00000258743.5:p.Leu47_Thr48insArgGlnProLeu | |
| ENST00000650428.1:n.46+4_46+15dup (STEAP1B) | ||
| ENST00000258743.9:c.131_142dup (IL6) | ENSP00000258743.5:p.Leu47_Thr48insArgGlnProLeu | |
| ENST00000401630.7:c.62_73dup (IL6) | ENSP00000384928.3:p.Leu24_Thr25insArgGlnProLeu | |
| ENST00000401651.5:c.-19+274_-19+285dup (IL6) | ENSP00000385718.1:n.-19+274_-19+285dup | |
| ENST00000404625.5:c.131_142dup (IL6) | ENSP00000385675.1:p.Leu47_Thr48insArgGlnProLeu | |
| ENST00000406575.1:c.131_142dup (IL6) | ENSP00000385227.1:p.Leu47_Thr48insArgGlnProLeu | |
| ENST00000407492.5:c.-19+274_-19+285dup (IL6) | ENSP00000385043.1:n.-19+274_-19+285dup | |
| ENST00000426291.5:c.131_142dup (IL6) | ENSP00000405150.1:p.Leu47_Thr48insArgGlnProLeu | |
| ENST00000485300.1:n.356_367dup (IL6) | ||
| NM_000600.3:c.131_142dup (IL6) | NP_000591.1:p.Leu47_Thr48insArgGlnProLeu | |
| NR_131935.1:n.53+4_53+15dup (IL6-AS1) | ||
| XM_005249745.3:c.293_304dup (IL6) | XP_005249802.1:p.Leu101_Thr102insArgGlnProLeu | |
| XM_011515390.1:c.131_142dup (IL6) | XP_011513692.1:p.Leu47_Thr48insArgGlnProLeu | |
| XM_011515391.1:c.-19+274_-19+285dup (IL6) | XP_011513693.1:n.-19+274_-19+285dup | |
| NM_000600.4:c.131_142dup (IL6) | NP_000591.1:p.Leu47_Thr48insArgGlnProLeu | |
| NM_001318095.1:c.-19+274_-19+285dup (IL6) | NP_001305024.1:n.-19+274_-19+285dup | |
| XM_005249745.5:c.293_304dup (IL6) | XP_005249802.1:p.Leu101_Thr102insArgGlnProLeu | |
| XM_011515390.2:c.131_142dup (IL6) | XP_011513692.1:p.Leu47_Thr48insArgGlnProLeu | |
| NM_000600.5:c.131_142dup (IL6) MANE Select | NP_000591.1:p.Leu47_Thr48insArgGlnProLeu | |
| NM_001318095.2:c.-19+274_-19+285dup (IL6) | NP_001305024.1:n.-19+274_-19+285dup | |
| NM_001371096.1:c.62_73dup (IL6) | NP_001358025.1:p.Leu24_Thr25insArgGlnProLeu |