Linked Data
ClinVar Variation Id:
179590
ClinVar RCV Id:
RCV000156384
dbSNP Id:
rs397516976
MyVariant Identifiers:
chr17:g.37880995_37880996insCTCCGTGATGGC (hg19)
chr17:g.39724742_39724743insCTCCGTGATGGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39724742_39724743insCTCCGTGATGGC , CM000679.2:g.39724742_39724743insCTCCGTGATGGC | GRCh38 |
| NC_000017.10:g.37880995_37880996insCTCCGTGATGGC , CM000679.1:g.37880995_37880996insCTCCGTGATGGC | GRCh37 |
| NC_000017.9:g.35134521_35134522insCTCCGTGATGGC | NCBI36 |
| NG_007503.1:g.41603_41604insCTCCGTGATGGC , LRG_724:g.41603_41604insCTCCGTGATGGC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269571.10:c.2324_2325insCTCCGTGATGGC MANE Select | ENSP00000269571.4:p.Ala775_Gly776insSerVa... | |
| ENST00000269571.9:c.2324_2325insCTCCGTGATGGC | ENSP00000269571.4:p.Ala775_Gly776insSerVa... | |
| ENST00000406381.6:c.2234_2235insCTCCGTGATGGC | ENSP00000385185.2:p.Ala745_Gly746insSerVa... | |
| ENST00000445658.6:c.1496_1497insCTCCGTGATGGC | ENSP00000404047.2:p.Ala499_Gly500insSerVa... | |
| ENST00000541774.5:c.2279_2280insCTCCGTGATGGC | ENSP00000446466.1:p.Ala760_Gly761insSerVa... | |
| ENST00000578373.5:c.*2114_*2115insCTCCGTGATGGC | ENSP00000463427.1:n.*2114_*2115insCTCCGTG... | |
| ENST00000580074.1:c.430_431insCTCCGTGATGGC | ||
| ENST00000583038.5:n.3458_3459insCTCCGTGATGGC | ||
| ENST00000584450.5:c.2324_2325insCTCCGTGATGGC | ENSP00000463714.1:p.Ala775_Gly776insSerVa... | |
| ENST00000584601.5:c.2234_2235insCTCCGTGATGGC | ENSP00000462438.1:p.Ala745_Gly746insSerVa... | |
| NM_001005862.2:c.2234_2235insCTCCGTGATGGC , LRG_724t1:c.2234_2235insCTCCGTGATGGC | NP_001005862.1:p.Ala745_Gly746insSerValMe... | |
| NM_001289936.1:c.2279_2280insCTCCGTGATGGC , LRG_724t4:c.2279_2280insCTCCGTGATGGC | NP_001276865.1:p.Ala760_Gly761insSerValMe... | |
| NM_001289937.1:c.2324_2325insCTCCGTGATGGC | NP_001276866.1:p.Ala775_Gly776insSerValMe... | |
| NM_004448.3:c.2324_2325insCTCCGTGATGGC , LRG_724t2:c.2324_2325insCTCCGTGATGGC | NP_004439.2:p.Ala775_Gly776insSerValMetAl... | |
| NR_110535.1:n.2648_2649insCTCCGTGATGGC | ||
| XM_024450641.1:c.2462_2463insCTCCGTGATGGC | XP_024306409.1:p.Ala821_Gly822insSerValMe... | |
| XM_024450642.1:c.2417_2418insCTCCGTGATGGC | XP_024306410.1:p.Ala806_Gly807insSerValMe... | |
| XM_024450643.1:c.2372_2373insCTCCGTGATGGC | XP_024306411.1:p.Ala791_Gly792insSerValMe... | |
| NM_001005862.3:c.2234_2235insCTCCGTGATGGC | NP_001005862.1:p.Ala745_Gly746insSerValMe... | |
| NM_001289936.2:c.2279_2280insCTCCGTGATGGC | NP_001276865.1:p.Ala760_Gly761insSerValMe... | |
| NM_001289937.2:c.2324_2325insCTCCGTGATGGC | NP_001276866.1:p.Ala775_Gly776insSerValMe... | |
| NM_001382782.1:c.2234_2235insCTCCGTGATGGC | NP_001369711.1:p.Ala745_Gly746insSerValMe... | |
| NM_001382783.1:c.2234_2235insCTCCGTGATGGC | NP_001369712.1:p.Ala745_Gly746insSerValMe... | |
| NM_001382784.1:c.2441_2442insCTCCGTGATGGC | NP_001369713.1:p.Ala814_Gly815insSerValMe... | |
| NM_001382785.1:c.2426_2427insCTCCGTGATGGC | NP_001369714.1:p.Ala809_Gly810insSerValMe... | |
| NM_001382786.1:c.2405_2406insCTCCGTGATGGC | NP_001369715.1:p.Ala802_Gly803insSerValMe... | |
| NM_001382787.1:c.2399_2400insCTCCGTGATGGC | NP_001369716.1:p.Ala800_Gly801insSerValMe... | |
| NM_001382788.1:c.2354_2355insCTCCGTGATGGC | NP_001369717.1:p.Ala785_Gly786insSerValMe... | |
| NM_001382789.1:c.2345_2346insCTCCGTGATGGC | NP_001369718.1:p.Ala782_Gly783insSerValMe... | |
| NM_001382790.1:c.2321_2322insCTCCGTGATGGC | NP_001369719.1:p.Ala774_Gly775insSerValMe... | |
| NM_001382791.1:c.2315_2316insCTCCGTGATGGC | NP_001369720.1:p.Ala772_Gly773insSerValMe... | |
| NM_001382792.1:c.2288_2289insCTCCGTGATGGC | NP_001369721.1:p.Ala763_Gly764insSerValMe... | |
| NM_001382793.1:c.2282_2283insCTCCGTGATGGC | NP_001369722.1:p.Ala761_Gly762insSerValMe... | |
| NM_001382794.1:c.2282_2283insCTCCGTGATGGC | NP_001369723.1:p.Ala761_Gly762insSerValMe... | |
| NM_001382795.1:c.2276_2277insCTCCGTGATGGC | NP_001369724.1:p.Ala759_Gly760insSerValMe... | |
| NM_001382796.1:c.2324_2325insCTCCGTGATGGC | NP_001369725.1:p.Ala775_Gly776insSerValMe... | |
| NM_001382797.1:c.2225_2226insCTCCGTGATGGC | NP_001369726.1:p.Ala742_Gly743insSerValMe... | |
| NM_001382798.1:c.2324_2325insCTCCGTGATGGC | NP_001369727.1:p.Ala775_Gly776insSerValMe... | |
| NM_001382799.1:c.2144_2145insCTCCGTGATGGC | NP_001369728.1:p.Ala715_Gly716insSerValMe... | |
| NM_001382800.1:c.2308-307_2308-306insCTCCGTGATGGC | NP_001369729.1:n.2308-307_2308-306insCTCC... | |
| NM_001382801.1:c.2276_2277insCTCCGTGATGGC | NP_001369730.1:p.Ala759_Gly760insSerValMe... | |
| NM_001382802.1:c.2066_2067insCTCCGTGATGGC | NP_001369731.1:p.Ala689_Gly690insSerValMe... | |
| NM_001382803.1:c.2282_2283insCTCCGTGATGGC | NP_001369732.1:p.Ala761_Gly762insSerValMe... | |
| NM_001382804.1:c.1496_1497insCTCCGTGATGGC | NP_001369733.1:p.Ala499_Gly500insSerValMe... | |
| NM_001382805.1:c.2208+1082_2208+1083insCTCCGTGATGGC | NP_001369734.1:n.2208+1082_2208+1083insCT... | |
| NM_001382806.1:c.1286_1287insCTCCGTGATGGC | NP_001369735.1:p.Ala429_Gly430insSerValMe... | |
| NM_004448.4:c.2324_2325insCTCCGTGATGGC MANE Select | NP_004439.2:p.Ala775_Gly776insSerValMetAl... | |
| NR_110535.2:n.2562_2563insCTCCGTGATGGC |