Linked Data
dbSNP Id:
rs1179846168
gnomAD v4:
9-131523210-C-CGGGCT
MyVariant Identifiers:
chr9:g.134398597_134398598insGGGCT (hg19)
chr9:g.131523210_131523211insGGGCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131523217_131523221dup , CM000671.2:g.131523217_131523221dup | GRCh38 |
| NC_000009.11:g.134398604_134398608dup , CM000671.1:g.134398604_134398608dup | GRCh37 |
| NC_000009.10:g.133388425_133388429dup | NCBI36 |
| NG_008896.1:g.25316_25320dup | |
| NG_008896.2:g.25316_25320dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.*111_*115dup | ENSP00000343034.7:n.*111_*115dup | |
| ENST00000404875.7:n.2829_2833dup | ||
| ENST00000677295.2:c.*2633_*2637dup | ENSP00000504346.2:n.*2633_*2637dup | |
| ENST00000678264.2:c.*2472_*2476dup | ENSP00000503157.2:n.*2472_*2476dup | |
| ENST00000682070.1:n.2599_2603dup | ||
| ENST00000682639.1:c.239+47_239+51dup | ||
| ENST00000682813.1:n.2686_2690dup | ||
| ENST00000683231.1:c.239+47_239+51dup | ||
| ENST00000683392.1:n.4881_4885dup | ||
| ENST00000683900.1:n.4189_4193dup | ||
| ENST00000684062.1:n.2955_2959dup | ||
| ENST00000684399.1:c.239+47_239+51dup | ||
| ENST00000684579.1:n.4135_4139dup | ||
| ENST00000341012.12:c.*111_*115dup | ENSP00000343034.7:n.*111_*115dup | |
| ENST00000372220.5:c.*111_*115dup | ENSP00000361294.5:n.*111_*115dup | |
| ENST00000372228.9:c.*111_*115dup | ENSP00000361302.3:n.*111_*115dup | |
| ENST00000402686.8:c.*111_*115dup MANE Select | ENSP00000385797.4:n.*111_*115dup | |
| ENST00000676640.1:c.*111_*115dup | ENSP00000503281.1:n.*111_*115dup | |
| ENST00000676803.1:c.*111_*115dup | ENSP00000503093.1:n.*111_*115dup | |
| ENST00000676835.1:c.*1504_*1508dup | ENSP00000502911.1:n.*1504_*1508dup | |
| ENST00000677029.1:c.*111_*115dup | ENSP00000502936.1:n.*111_*115dup | |
| ENST00000677099.1:c.*1999_*2003dup | ENSP00000504553.1:n.*1999_*2003dup | |
| ENST00000677216.1:c.*111_*115dup | ENSP00000503772.1:n.*111_*115dup | |
| ENST00000677295.1:c.*1511_*1515dup | ENSP00000504346.1:n.*1511_*1515dup | |
| ENST00000677444.1:c.2234_2238dup | ||
| ENST00000677626.1:c.*111_*115dup | ENSP00000503552.1:n.*111_*115dup | |
| ENST00000677853.1:c.*1297_*1301dup | ENSP00000503488.1:n.*1297_*1301dup | |
| ENST00000678303.1:c.*111_*115dup | ENSP00000503696.1:n.*111_*115dup | |
| ENST00000678366.1:c.*2538_*2542dup | ENSP00000504353.1:n.*2538_*2542dup | |
| ENST00000678546.1:c.*2234_*2238dup | ENSP00000503062.1:n.*2234_*2238dup | |
| ENST00000678548.1:c.*2428_*2432dup | ENSP00000503934.1:n.*2428_*2432dup | |
| ENST00000678626.1:n.2125_2129dup | ||
| ENST00000678739.1:c.*2455_*2459dup | ENSP00000503806.1:n.*2455_*2459dup | |
| ENST00000678833.1:c.*2041_*2045dup | ENSP00000503893.1:n.*2041_*2045dup | |
| ENST00000679023.1:c.*64+47_*64+51dup | ENSP00000503718.1:n.*64+47_*64+51dup | |
| ENST00000679076.1:c.1908_1912dup | ||
| ENST00000679111.1:c.*1045_*1049dup | ENSP00000504257.1:n.*1045_*1049dup | |
| ENST00000679189.1:c.*111_*115dup | ENSP00000503356.1:n.*111_*115dup | |
| ENST00000341012.11:c.*111_*115dup | ENSP00000343034.7:n.*111_*115dup | |
| ENST00000372220.4:c.1152_1156dup | ENSP00000361294.4:n.1152_1156dup | |
| ENST00000372228.7:c.*111_*115dup | ENSP00000361302.3:n.*111_*115dup | |
| ENST00000402686.7:c.*111_*115dup | ENSP00000385797.3:n.*111_*115dup | |
| ENST00000404875.6:c.*111_*115dup | ENSP00000384531.2:n.*111_*115dup | |
| ENST00000423007.5:c.*111_*115dup | ENSP00000404119.1:n.*111_*115dup | |
| ENST00000485278.5:n.2839_2843dup | ||
| NM_001077365.1:c.*111_*115dup | NP_001070833.1:n.*111_*115dup | |
| NM_001077366.1:c.*111_*115dup | NP_001070834.1:n.*111_*115dup | |
| NM_001136113.1:c.*111_*115dup | NP_001129585.1:n.*111_*115dup | |
| NM_001136114.1:c.*111_*115dup | NP_001129586.1:n.*111_*115dup | |
| NM_007171.3:c.*111_*115dup | NP_009102.3:n.*111_*115dup | |
| XM_005272156.1:c.*111_*115dup | XP_005272213.1:n.*111_*115dup | |
| XM_005272158.1:c.*111_*115dup | XP_005272215.1:n.*111_*115dup | |
| XM_005272159.1:c.*111_*115dup | XP_005272216.1:n.*111_*115dup | |
| XM_005272162.1:c.*111_*115dup | XP_005272219.1:n.*111_*115dup | |
| XM_006716932.1:c.*111_*115dup | XP_006716995.1:n.*111_*115dup | |
| XM_011518140.1:c.*111_*115dup | XP_011516442.1:n.*111_*115dup | |
| XM_011518141.1:c.*111_*115dup | XP_011516443.1:n.*111_*115dup | |
| XM_011518142.1:c.*111_*115dup | XP_011516444.1:n.*111_*115dup | |
| XM_011518143.1:c.*111_*115dup | XP_011516445.1:n.*111_*115dup | |
| XM_011518145.1:c.*111_*115dup | XP_011516447.1:n.*111_*115dup | |
| XM_011518147.1:c.*111_*115dup | XP_011516449.1:n.*111_*115dup | |
| XR_929703.1:n.2484+47_2484+51dup | ||
| NM_001353193.1:c.*111_*115dup | NP_001340122.1:n.*111_*115dup | |
| NM_001353194.1:c.*111_*115dup | NP_001340123.1:n.*111_*115dup | |
| NM_001353195.1:c.*111_*115dup | NP_001340124.1:n.*111_*115dup | |
| NM_001353196.1:c.*111_*115dup | NP_001340125.1:n.*111_*115dup | |
| NM_001353197.1:c.*111_*115dup | NP_001340126.1:n.*111_*115dup | |
| NM_001353198.1:c.*111_*115dup | NP_001340127.1:n.*111_*115dup | |
| NM_001353199.1:c.*111_*115dup | NP_001340128.1:n.*111_*115dup | |
| NM_001353200.1:c.*111_*115dup | NP_001340129.1:n.*111_*115dup | |
| NR_148391.1:n.2292+47_2292+51dup | ||
| NR_148392.1:n.2510+47_2510+51dup | ||
| NR_148393.1:n.2478_2482dup | ||
| NR_148394.1:n.2232_2236dup | ||
| NR_148395.1:n.2630_2634dup | ||
| NR_148396.1:n.2264_2268dup | ||
| NR_148397.1:n.2389_2393dup | ||
| NR_148398.1:n.2344_2348dup | ||
| NR_148399.1:n.2823+47_2823+51dup | ||
| NR_148400.1:n.2469_2473dup | ||
| XM_005272162.3:c.*111_*115dup | XP_005272219.1:n.*111_*115dup | |
| XM_006716932.2:c.*111_*115dup | XP_006716995.1:n.*111_*115dup | |
| XM_011518140.2:c.*111_*115dup | XP_011516442.1:n.*111_*115dup | |
| XM_011518141.2:c.*111_*115dup | XP_011516443.1:n.*111_*115dup | |
| XM_011518142.2:c.*111_*115dup | XP_011516444.1:n.*111_*115dup | |
| XM_011518143.2:c.*111_*115dup | XP_011516445.1:n.*111_*115dup | |
| XM_011518145.2:c.*111_*115dup | XP_011516447.1:n.*111_*115dup | |
| XM_017014205.2:c.*111_*115dup | XP_016869694.1:n.*111_*115dup | |
| XM_024447380.1:c.*111_*115dup | XP_024303148.1:n.*111_*115dup | |
| XM_024447381.1:c.*111_*115dup | XP_024303149.1:n.*111_*115dup | |
| XM_024447382.1:c.*111_*115dup | XP_024303150.1:n.*111_*115dup | |
| XR_001746160.2:n.2412+47_2412+51dup | ||
| XR_001746162.2:n.2664_2668dup | ||
| XR_001746164.1:n.2381_2385dup | ||
| XR_001746166.2:n.2629+47_2629+51dup | ||
| NM_001077365.2:c.*111_*115dup MANE Select | NP_001070833.1:n.*111_*115dup | |
| NM_001077366.2:c.*111_*115dup | NP_001070834.1:n.*111_*115dup | |
| NM_001136113.2:c.*111_*115dup | NP_001129585.1:n.*111_*115dup | |
| NM_001136114.2:c.*111_*115dup | NP_001129586.1:n.*111_*115dup | |
| NM_001353193.2:c.*111_*115dup | NP_001340122.2:n.*111_*115dup | |
| NM_001353194.2:c.*111_*115dup | NP_001340123.1:n.*111_*115dup | |
| NM_001353195.2:c.*111_*115dup | NP_001340124.1:n.*111_*115dup | |
| NM_001353196.2:c.*111_*115dup | NP_001340125.1:n.*111_*115dup | |
| NM_001353197.2:c.*111_*115dup | NP_001340126.2:n.*111_*115dup | |
| NM_001353198.2:c.*111_*115dup | NP_001340127.2:n.*111_*115dup | |
| NM_001353199.2:c.*111_*115dup | NP_001340128.2:n.*111_*115dup | |
| NM_001353200.2:c.*111_*115dup | NP_001340129.1:n.*111_*115dup | |
| NM_001374689.1:c.*111_*115dup | NP_001361618.1:n.*111_*115dup | |
| NM_001374690.1:c.*111_*115dup | NP_001361619.1:n.*111_*115dup | |
| NM_001374691.1:c.*111_*115dup | NP_001361620.1:n.*111_*115dup | |
| NM_001374692.1:c.*111_*115dup | NP_001361621.1:n.*111_*115dup | |
| NM_001374693.1:c.*111_*115dup | NP_001361622.1:n.*111_*115dup | |
| NM_001374695.1:c.*111_*115dup | NP_001361624.1:n.*111_*115dup | |
| NM_007171.4:c.*111_*115dup | NP_009102.4:n.*111_*115dup | |
| NR_148391.2:n.2276+47_2276+51dup | ||
| NR_148392.2:n.2494+47_2494+51dup | ||
| NR_148393.2:n.2462_2466dup | ||
| NR_148394.2:n.2216_2220dup | ||
| NR_148395.2:n.2614_2618dup | ||
| NR_148396.2:n.2248_2252dup | ||
| NR_148397.2:n.2373_2377dup | ||
| NR_148398.2:n.2328_2332dup | ||
| NR_148399.2:n.2807+47_2807+51dup | ||
| NR_148400.2:n.2453_2457dup |