Linked Data
ClinVar Variation Id:
13875
dbSNP Id:
rs397516975
MyVariant Identifiers:
chr17:g.37880984_37880995dupATACGTGATGGC (hg19)
chr17:g.37880995_37880996insATACGTGATGGC (hg19)
chr17:g.39724731_39724742dupATACGTGATGGC (hg38)
chr17:g.39724742_39724743insATACGTGATGGC (hg38)
PubMed:
PMID:15457249
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39724731_39724742dup , CM000679.2:g.39724731_39724742dup | GRCh38 |
| NC_000017.10:g.37880984_37880995dup , CM000679.1:g.37880984_37880995dup | GRCh37 |
| NC_000017.9:g.35134510_35134521dup | NCBI36 |
| NG_007503.1:g.41592_41603dup , LRG_724:g.41592_41603dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269571.10:c.2313_2324dup MANE Select | ENSP00000269571.4:p.Ala775_Gly776insTyrVa... | |
| ENST00000269571.9:c.2313_2324dup | ENSP00000269571.4:p.Ala775_Gly776insTyrVa... | |
| ENST00000406381.6:c.2223_2234dup | ENSP00000385185.2:p.Ala745_Gly746insTyrVa... | |
| ENST00000445658.6:c.1485_1496dup | ENSP00000404047.2:p.Ala499_Gly500insTyrVa... | |
| ENST00000541774.5:c.2268_2279dup | ENSP00000446466.1:p.Ala760_Gly761insTyrVa... | |
| ENST00000578373.5:c.*2103_*2114dup | ENSP00000463427.1:n.*2103_*2114dup | |
| ENST00000580074.1:c.419_430dup | ||
| ENST00000583038.5:n.3447_3458dup | ||
| ENST00000584450.5:c.2313_2324dup | ENSP00000463714.1:p.Ala775_Gly776insTyrVa... | |
| ENST00000584601.5:c.2223_2234dup | ENSP00000462438.1:p.Ala745_Gly746insTyrVa... | |
| NM_001005862.2:c.2223_2234dup , LRG_724t1:c.2223_2234dup | NP_001005862.1:p.Ala745_Gly746insTyrValMe... | |
| NM_001289936.1:c.2268_2279dup , LRG_724t4:c.2268_2279dup | NP_001276865.1:p.Ala760_Gly761insTyrValMe... | |
| NM_001289937.1:c.2313_2324dup | NP_001276866.1:p.Ala775_Gly776insTyrValMe... | |
| NM_004448.3:c.2313_2324dup , LRG_724t2:c.2313_2324dup | NP_004439.2:p.Ala775_Gly776insTyrValMetAl... | |
| NR_110535.1:n.2637_2648dup | ||
| XM_024450641.1:c.2451_2462dup | XP_024306409.1:p.Ala821_Gly822insTyrValMe... | |
| XM_024450642.1:c.2406_2417dup | XP_024306410.1:p.Ala806_Gly807insTyrValMe... | |
| XM_024450643.1:c.2361_2372dup | XP_024306411.1:p.Ala791_Gly792insTyrValMe... | |
| NM_001005862.3:c.2223_2234dup | NP_001005862.1:p.Ala745_Gly746insTyrValMe... | |
| NM_001289936.2:c.2268_2279dup | NP_001276865.1:p.Ala760_Gly761insTyrValMe... | |
| NM_001289937.2:c.2313_2324dup | NP_001276866.1:p.Ala775_Gly776insTyrValMe... | |
| NM_001382782.1:c.2223_2234dup | NP_001369711.1:p.Ala745_Gly746insTyrValMe... | |
| NM_001382783.1:c.2223_2234dup | NP_001369712.1:p.Ala745_Gly746insTyrValMe... | |
| NM_001382784.1:c.2430_2441dup | NP_001369713.1:p.Ala814_Gly815insTyrValMe... | |
| NM_001382785.1:c.2415_2426dup | NP_001369714.1:p.Ala809_Gly810insTyrValMe... | |
| NM_001382786.1:c.2394_2405dup | NP_001369715.1:p.Ala802_Gly803insTyrValMe... | |
| NM_001382787.1:c.2388_2399dup | NP_001369716.1:p.Ala800_Gly801insTyrValMe... | |
| NM_001382788.1:c.2343_2354dup | NP_001369717.1:p.Ala785_Gly786insTyrValMe... | |
| NM_001382789.1:c.2334_2345dup | NP_001369718.1:p.Ala782_Gly783insTyrValMe... | |
| NM_001382790.1:c.2310_2321dup | NP_001369719.1:p.Ala774_Gly775insTyrValMe... | |
| NM_001382791.1:c.2304_2315dup | NP_001369720.1:p.Ala772_Gly773insTyrValMe... | |
| NM_001382792.1:c.2277_2288dup | NP_001369721.1:p.Ala763_Gly764insTyrValMe... | |
| NM_001382793.1:c.2271_2282dup | NP_001369722.1:p.Ala761_Gly762insTyrValMe... | |
| NM_001382794.1:c.2271_2282dup | NP_001369723.1:p.Ala761_Gly762insTyrValMe... | |
| NM_001382795.1:c.2265_2276dup | NP_001369724.1:p.Ala759_Gly760insTyrValMe... | |
| NM_001382796.1:c.2313_2324dup | NP_001369725.1:p.Ala775_Gly776insTyrValMe... | |
| NM_001382797.1:c.2214_2225dup | NP_001369726.1:p.Ala742_Gly743insTyrValMe... | |
| NM_001382798.1:c.2313_2324dup | NP_001369727.1:p.Ala775_Gly776insTyrValMe... | |
| NM_001382799.1:c.2133_2144dup | NP_001369728.1:p.Ala715_Gly716insTyrValMe... | |
| NM_001382800.1:c.2308-318_2308-307dup | NP_001369729.1:n.2308-318_2308-307dup | |
| NM_001382801.1:c.2265_2276dup | NP_001369730.1:p.Ala759_Gly760insTyrValMe... | |
| NM_001382802.1:c.2055_2066dup | NP_001369731.1:p.Ala689_Gly690insTyrValMe... | |
| NM_001382803.1:c.2271_2282dup | NP_001369732.1:p.Ala761_Gly762insTyrValMe... | |
| NM_001382804.1:c.1485_1496dup | NP_001369733.1:p.Ala499_Gly500insTyrValMe... | |
| NM_001382805.1:c.2208+1071_2208+1082dup | NP_001369734.1:n.2208+1071_2208+1082dup | |
| NM_001382806.1:c.1275_1286dup | NP_001369735.1:p.Ala429_Gly430insTyrValMe... | |
| NM_004448.4:c.2313_2324dup MANE Select | NP_004439.2:p.Ala775_Gly776insTyrValMetAl... | |
| NR_110535.2:n.2551_2562dup |