Linked Data
ClinVar Variation Id:
13876
ClinVar RCV Id:
RCV000014890
dbSNP Id:
rs587776805
COSMIC:
COSM681
MyVariant Identifiers:
chr17:g.37880999_37881007dupTGTGGGCTC (hg19)
chr17:g.39724746_39724754dupTGTGGGCTC (hg38)
PubMed:
PMID:15457249
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39724746_39724754dup , CM000679.2:g.39724746_39724754dup | GRCh38 |
| NC_000017.10:g.37880999_37881007dup , CM000679.1:g.37880999_37881007dup | GRCh37 |
| NC_000017.9:g.35134525_35134533dup | NCBI36 |
| NG_007503.1:g.41607_41615dup , LRG_724:g.41607_41615dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269571.10:c.2328_2336dup MANE Select | ENSP00000269571.4:p.Ser779_Pro780insValGl... | |
| ENST00000269571.9:c.2328_2336dup | ENSP00000269571.4:p.Ser779_Pro780insValGl... | |
| ENST00000406381.6:c.2238_2246dup | ENSP00000385185.2:p.Ser749_Pro750insValGl... | |
| ENST00000445658.6:c.1500_1508dup | ENSP00000404047.2:p.Ser503_Pro504insValGl... | |
| ENST00000541774.5:c.2283_2291dup | ENSP00000446466.1:p.Ser764_Pro765insValGl... | |
| ENST00000578373.5:c.*2118_*2126dup | ENSP00000463427.1:n.*2118_*2126dup | |
| ENST00000580074.1:c.434_442dup | ||
| ENST00000583038.5:n.3462_3470dup | ||
| ENST00000584450.5:c.2328_2336dup | ENSP00000463714.1:p.Ser779_Pro780insValGl... | |
| ENST00000584601.5:c.2238_2246dup | ENSP00000462438.1:p.Ser749_Pro750insValGl... | |
| NM_001005862.2:c.2238_2246dup , LRG_724t1:c.2238_2246dup | NP_001005862.1:p.Ser749_Pro750insValGlySe... | |
| NM_001289936.1:c.2283_2291dup , LRG_724t4:c.2283_2291dup | NP_001276865.1:p.Ser764_Pro765insValGlySe... | |
| NM_001289937.1:c.2328_2336dup | NP_001276866.1:p.Ser779_Pro780insValGlySe... | |
| NM_004448.3:c.2328_2336dup , LRG_724t2:c.2328_2336dup | NP_004439.2:p.Ser779_Pro780insValGlySer | |
| NR_110535.1:n.2652_2660dup | ||
| XM_024450641.1:c.2466_2474dup | XP_024306409.1:p.Ser825_Pro826insValGlySe... | |
| XM_024450642.1:c.2421_2429dup | XP_024306410.1:p.Ser810_Pro811insValGlySe... | |
| XM_024450643.1:c.2376_2384dup | XP_024306411.1:p.Ser795_Pro796insValGlySe... | |
| NM_001005862.3:c.2238_2246dup | NP_001005862.1:p.Ser749_Pro750insValGlySe... | |
| NM_001289936.2:c.2283_2291dup | NP_001276865.1:p.Ser764_Pro765insValGlySe... | |
| NM_001289937.2:c.2328_2336dup | NP_001276866.1:p.Ser779_Pro780insValGlySe... | |
| NM_001382782.1:c.2238_2246dup | NP_001369711.1:p.Ser749_Pro750insValGlySe... | |
| NM_001382783.1:c.2238_2246dup | NP_001369712.1:p.Ser749_Pro750insValGlySe... | |
| NM_001382784.1:c.2445_2453dup | NP_001369713.1:p.Ser818_Pro819insValGlySe... | |
| NM_001382785.1:c.2430_2438dup | NP_001369714.1:p.Ser813_Pro814insValGlySe... | |
| NM_001382786.1:c.2409_2417dup | NP_001369715.1:p.Ser806_Pro807insValGlySe... | |
| NM_001382787.1:c.2403_2411dup | NP_001369716.1:p.Ser804_Pro805insValGlySe... | |
| NM_001382788.1:c.2358_2366dup | NP_001369717.1:p.Ser789_Pro790insValGlySe... | |
| NM_001382789.1:c.2349_2357dup | NP_001369718.1:p.Ser786_Pro787insValGlySe... | |
| NM_001382790.1:c.2325_2333dup | NP_001369719.1:p.Ser778_Pro779insValGlySe... | |
| NM_001382791.1:c.2319_2327dup | NP_001369720.1:p.Ser776_Pro777insValGlySe... | |
| NM_001382792.1:c.2292_2300dup | NP_001369721.1:p.Ser767_Pro768insValGlySe... | |
| NM_001382793.1:c.2286_2294dup | NP_001369722.1:p.Ser765_Pro766insValGlySe... | |
| NM_001382794.1:c.2286_2294dup | NP_001369723.1:p.Ser765_Pro766insValGlySe... | |
| NM_001382795.1:c.2280_2288dup | NP_001369724.1:p.Ser763_Pro764insValGlySe... | |
| NM_001382796.1:c.2328_2336dup | NP_001369725.1:p.Ser779_Pro780insValGlySe... | |
| NM_001382797.1:c.2229_2237dup | NP_001369726.1:p.Ser746_Pro747insValGlySe... | |
| NM_001382798.1:c.2328_2336dup | NP_001369727.1:p.Ser779_Pro780insValGlySe... | |
| NM_001382799.1:c.2148_2156dup | NP_001369728.1:p.Ser719_Pro720insValGlySe... | |
| NM_001382800.1:c.2308-303_2308-295dup | NP_001369729.1:n.2308-303_2308-295dup | |
| NM_001382801.1:c.2280_2288dup | NP_001369730.1:p.Ser763_Pro764insValGlySe... | |
| NM_001382802.1:c.2070_2078dup | NP_001369731.1:p.Ser693_Pro694insValGlySe... | |
| NM_001382803.1:c.2286_2294dup | NP_001369732.1:p.Ser765_Pro766insValGlySe... | |
| NM_001382804.1:c.1500_1508dup | NP_001369733.1:p.Ser503_Pro504insValGlySe... | |
| NM_001382805.1:c.2208+1086_2208+1094dup | NP_001369734.1:n.2208+1086_2208+1094dup | |
| NM_001382806.1:c.1290_1298dup | NP_001369735.1:p.Ser433_Pro434insValGlySe... | |
| NM_004448.4:c.2328_2336dup MANE Select | NP_004439.2:p.Ser779_Pro780insValGlySer | |
| NR_110535.2:n.2566_2574dup |