Linked Data
dbSNP Id:
rs397516977
COSMIC:
COSM12558
MyVariant Identifiers:
chr17:g.37880985_37880996dupTACGTGATGGCT (hg19)
chr17:g.37880996_37880997insTACGTGATGGCT (hg19)
chr17:g.39724732_39724743dupTACGTGATGGCT (hg38)
chr17:g.39724743_39724744insTACGTGATGGCT (hg38)
CIViC:
CA135369
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39724732_39724743dup , CM000679.2:g.39724732_39724743dup | GRCh38 |
| NC_000017.10:g.37880985_37880996dup , CM000679.1:g.37880985_37880996dup | GRCh37 |
| NC_000017.9:g.35134511_35134522dup | NCBI36 |
| NG_007503.1:g.41593_41604dup , LRG_724:g.41593_41604dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269571.10:c.2314_2325dup MANE Select | ENSP00000269571.4:p.Ala775_Gly776insTyrVa... | |
| ENST00000269571.9:c.2314_2325dup | ENSP00000269571.4:p.Ala775_Gly776insTyrVa... | |
| ENST00000406381.6:c.2224_2235dup | ENSP00000385185.2:p.Ala745_Gly746insTyrVa... | |
| ENST00000445658.6:c.1486_1497dup | ENSP00000404047.2:p.Ala499_Gly500insTyrVa... | |
| ENST00000541774.5:c.2269_2280dup | ENSP00000446466.1:p.Ala760_Gly761insTyrVa... | |
| ENST00000578373.5:c.*2104_*2115dup | ENSP00000463427.1:n.*2104_*2115dup | |
| ENST00000580074.1:c.420_431dup | ||
| ENST00000583038.5:n.3448_3459dup | ||
| ENST00000584450.5:c.2314_2325dup | ENSP00000463714.1:p.Ala775_Gly776insTyrVa... | |
| ENST00000584601.5:c.2224_2235dup | ENSP00000462438.1:p.Ala745_Gly746insTyrVa... | |
| NM_001005862.2:c.2224_2235dup , LRG_724t1:c.2224_2235dup | NP_001005862.1:p.Ala745_Gly746insTyrValMe... | |
| NM_001289936.1:c.2269_2280dup , LRG_724t4:c.2269_2280dup | NP_001276865.1:p.Ala760_Gly761insTyrValMe... | |
| NM_001289937.1:c.2314_2325dup | NP_001276866.1:p.Ala775_Gly776insTyrValMe... | |
| NM_004448.3:c.2314_2325dup , LRG_724t2:c.2314_2325dup | NP_004439.2:p.Ala775_Gly776insTyrValMetAl... | |
| NR_110535.1:n.2638_2649dup | ||
| XM_024450641.1:c.2452_2463dup | XP_024306409.1:p.Ala821_Gly822insTyrValMe... | |
| XM_024450642.1:c.2407_2418dup | XP_024306410.1:p.Ala806_Gly807insTyrValMe... | |
| XM_024450643.1:c.2362_2373dup | XP_024306411.1:p.Ala791_Gly792insTyrValMe... | |
| NM_001005862.3:c.2224_2235dup | NP_001005862.1:p.Ala745_Gly746insTyrValMe... | |
| NM_001289936.2:c.2269_2280dup | NP_001276865.1:p.Ala760_Gly761insTyrValMe... | |
| NM_001289937.2:c.2314_2325dup | NP_001276866.1:p.Ala775_Gly776insTyrValMe... | |
| NM_001382782.1:c.2224_2235dup | NP_001369711.1:p.Ala745_Gly746insTyrValMe... | |
| NM_001382783.1:c.2224_2235dup | NP_001369712.1:p.Ala745_Gly746insTyrValMe... | |
| NM_001382784.1:c.2431_2442dup | NP_001369713.1:p.Ala814_Gly815insTyrValMe... | |
| NM_001382785.1:c.2416_2427dup | NP_001369714.1:p.Ala809_Gly810insTyrValMe... | |
| NM_001382786.1:c.2395_2406dup | NP_001369715.1:p.Ala802_Gly803insTyrValMe... | |
| NM_001382787.1:c.2389_2400dup | NP_001369716.1:p.Ala800_Gly801insTyrValMe... | |
| NM_001382788.1:c.2344_2355dup | NP_001369717.1:p.Ala785_Gly786insTyrValMe... | |
| NM_001382789.1:c.2335_2346dup | NP_001369718.1:p.Ala782_Gly783insTyrValMe... | |
| NM_001382790.1:c.2311_2322dup | NP_001369719.1:p.Ala774_Gly775insTyrValMe... | |
| NM_001382791.1:c.2305_2316dup | NP_001369720.1:p.Ala772_Gly773insTyrValMe... | |
| NM_001382792.1:c.2278_2289dup | NP_001369721.1:p.Ala763_Gly764insTyrValMe... | |
| NM_001382793.1:c.2272_2283dup | NP_001369722.1:p.Ala761_Gly762insTyrValMe... | |
| NM_001382794.1:c.2272_2283dup | NP_001369723.1:p.Ala761_Gly762insTyrValMe... | |
| NM_001382795.1:c.2266_2277dup | NP_001369724.1:p.Ala759_Gly760insTyrValMe... | |
| NM_001382796.1:c.2314_2325dup | NP_001369725.1:p.Ala775_Gly776insTyrValMe... | |
| NM_001382797.1:c.2215_2226dup | NP_001369726.1:p.Ala742_Gly743insTyrValMe... | |
| NM_001382798.1:c.2314_2325dup | NP_001369727.1:p.Ala775_Gly776insTyrValMe... | |
| NM_001382799.1:c.2134_2145dup | NP_001369728.1:p.Ala715_Gly716insTyrValMe... | |
| NM_001382800.1:c.2308-317_2308-306dup | NP_001369729.1:n.2308-317_2308-306dup | |
| NM_001382801.1:c.2266_2277dup | NP_001369730.1:p.Ala759_Gly760insTyrValMe... | |
| NM_001382802.1:c.2056_2067dup | NP_001369731.1:p.Ala689_Gly690insTyrValMe... | |
| NM_001382803.1:c.2272_2283dup | NP_001369732.1:p.Ala761_Gly762insTyrValMe... | |
| NM_001382804.1:c.1486_1497dup | NP_001369733.1:p.Ala499_Gly500insTyrValMe... | |
| NM_001382805.1:c.2208+1072_2208+1083dup | NP_001369734.1:n.2208+1072_2208+1083dup | |
| NM_001382806.1:c.1276_1287dup | NP_001369735.1:p.Ala429_Gly430insTyrValMe... | |
| NM_004448.4:c.2314_2325dup MANE Select | NP_004439.2:p.Ala775_Gly776insTyrValMetAl... | |
| NR_110535.2:n.2552_2563dup |