Linked Data
ClinVar Variation Id:
375993
ClinVar RCV Id:
RCV000429589
dbSNP Id:
rs1057519737
MyVariant Identifiers:
chr17:g.37881003_37881004insGGCTCCCCA (hg19)
chr17:g.39724750_39724751insGGCTCCCCA (hg38)
PubMed:
PMID:23220880
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39724751_39724752insGCTCCCCAG , CM000679.2:g.39724751_39724752insGCTCCCCAG | GRCh38 |
| NC_000017.10:g.37881004_37881005insGCTCCCCAG , CM000679.1:g.37881004_37881005insGCTCCCCAG | GRCh37 |
| NC_000017.9:g.35134530_35134531insGCTCCCCAG | NCBI36 |
| NG_007503.1:g.41612_41613insGCTCCCCAG , LRG_724:g.41612_41613insGCTCCCCAG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269571.10:c.2333_2334insGCTCCCCAG MANE Select | ENSP00000269571.4:p.Gly778_Ser779insLeuPr... | |
| ENST00000269571.9:c.2333_2334insGCTCCCCAG | ENSP00000269571.4:p.Gly778_Ser779insLeuPr... | |
| ENST00000406381.6:c.2243_2244insGCTCCCCAG | ENSP00000385185.2:p.Gly748_Ser749insLeuPr... | |
| ENST00000445658.6:c.1505_1506insGCTCCCCAG | ENSP00000404047.2:p.Gly502_Ser503insLeuPr... | |
| ENST00000541774.5:c.2288_2289insGCTCCCCAG | ENSP00000446466.1:p.Gly763_Ser764insLeuPr... | |
| ENST00000578373.5:c.*2123_*2124insGCTCCCCAG | ENSP00000463427.1:n.*2123_*2124insGCTCCCC... | |
| ENST00000580074.1:c.439_440insGCTCCCCAG | ||
| ENST00000583038.5:n.3467_3468insGCTCCCCAG | ||
| ENST00000584450.5:c.2333_2334insGCTCCCCAG | ENSP00000463714.1:p.Gly778_Ser779insLeuPr... | |
| ENST00000584601.5:c.2243_2244insGCTCCCCAG | ENSP00000462438.1:p.Gly748_Ser749insLeuPr... | |
| NM_001005862.2:c.2243_2244insGCTCCCCAG , LRG_724t1:c.2243_2244insGCTCCCCAG | NP_001005862.1:p.Gly748_Ser749insLeuProSe... | |
| NM_001289936.1:c.2288_2289insGCTCCCCAG , LRG_724t4:c.2288_2289insGCTCCCCAG | NP_001276865.1:p.Gly763_Ser764insLeuProSe... | |
| NM_001289937.1:c.2333_2334insGCTCCCCAG | NP_001276866.1:p.Gly778_Ser779insLeuProSe... | |
| NM_004448.3:c.2333_2334insGCTCCCCAG , LRG_724t2:c.2333_2334insGCTCCCCAG | NP_004439.2:p.Gly778_Ser779insLeuProSer | |
| NR_110535.1:n.2657_2658insGCTCCCCAG | ||
| XM_024450641.1:c.2471_2472insGCTCCCCAG | XP_024306409.1:p.Gly824_Ser825insLeuProSe... | |
| XM_024450642.1:c.2426_2427insGCTCCCCAG | XP_024306410.1:p.Gly809_Ser810insLeuProSe... | |
| XM_024450643.1:c.2381_2382insGCTCCCCAG | XP_024306411.1:p.Gly794_Ser795insLeuProSe... | |
| NM_001005862.3:c.2243_2244insGCTCCCCAG | NP_001005862.1:p.Gly748_Ser749insLeuProSe... | |
| NM_001289936.2:c.2288_2289insGCTCCCCAG | NP_001276865.1:p.Gly763_Ser764insLeuProSe... | |
| NM_001289937.2:c.2333_2334insGCTCCCCAG | NP_001276866.1:p.Gly778_Ser779insLeuProSe... | |
| NM_001382782.1:c.2243_2244insGCTCCCCAG | NP_001369711.1:p.Gly748_Ser749insLeuProSe... | |
| NM_001382783.1:c.2243_2244insGCTCCCCAG | NP_001369712.1:p.Gly748_Ser749insLeuProSe... | |
| NM_001382784.1:c.2450_2451insGCTCCCCAG | NP_001369713.1:p.Gly817_Ser818insLeuProSe... | |
| NM_001382785.1:c.2435_2436insGCTCCCCAG | NP_001369714.1:p.Gly812_Ser813insLeuProSe... | |
| NM_001382786.1:c.2414_2415insGCTCCCCAG | NP_001369715.1:p.Gly805_Ser806insLeuProSe... | |
| NM_001382787.1:c.2408_2409insGCTCCCCAG | NP_001369716.1:p.Gly803_Ser804insLeuProSe... | |
| NM_001382788.1:c.2363_2364insGCTCCCCAG | NP_001369717.1:p.Gly788_Ser789insLeuProSe... | |
| NM_001382789.1:c.2354_2355insGCTCCCCAG | NP_001369718.1:p.Gly785_Ser786insLeuProSe... | |
| NM_001382790.1:c.2330_2331insGCTCCCCAG | NP_001369719.1:p.Gly777_Ser778insLeuProSe... | |
| NM_001382791.1:c.2324_2325insGCTCCCCAG | NP_001369720.1:p.Gly775_Ser776insLeuProSe... | |
| NM_001382792.1:c.2297_2298insGCTCCCCAG | NP_001369721.1:p.Gly766_Ser767insLeuProSe... | |
| NM_001382793.1:c.2291_2292insGCTCCCCAG | NP_001369722.1:p.Gly764_Ser765insLeuProSe... | |
| NM_001382794.1:c.2291_2292insGCTCCCCAG | NP_001369723.1:p.Gly764_Ser765insLeuProSe... | |
| NM_001382795.1:c.2285_2286insGCTCCCCAG | NP_001369724.1:p.Gly762_Ser763insLeuProSe... | |
| NM_001382796.1:c.2333_2334insGCTCCCCAG | NP_001369725.1:p.Gly778_Ser779insLeuProSe... | |
| NM_001382797.1:c.2234_2235insGCTCCCCAG | NP_001369726.1:p.Gly745_Ser746insLeuProSe... | |
| NM_001382798.1:c.2333_2334insGCTCCCCAG | NP_001369727.1:p.Gly778_Ser779insLeuProSe... | |
| NM_001382799.1:c.2153_2154insGCTCCCCAG | NP_001369728.1:p.Gly718_Ser719insLeuProSe... | |
| NM_001382800.1:c.2308-298_2308-297insGCTCCCCAG | NP_001369729.1:n.2308-298_2308-297insGCTC... | |
| NM_001382801.1:c.2285_2286insGCTCCCCAG | NP_001369730.1:p.Gly762_Ser763insLeuProSe... | |
| NM_001382802.1:c.2075_2076insGCTCCCCAG | NP_001369731.1:p.Gly692_Ser693insLeuProSe... | |
| NM_001382803.1:c.2291_2292insGCTCCCCAG | NP_001369732.1:p.Gly764_Ser765insLeuProSe... | |
| NM_001382804.1:c.1505_1506insGCTCCCCAG | NP_001369733.1:p.Gly502_Ser503insLeuProSe... | |
| NM_001382805.1:c.2208+1091_2208+1092insGCTCCCCAG | NP_001369734.1:n.2208+1091_2208+1092insGC... | |
| NM_001382806.1:c.1295_1296insGCTCCCCAG | NP_001369735.1:p.Gly432_Ser433insLeuProSe... | |
| NM_004448.4:c.2333_2334insGCTCCCCAG MANE Select | NP_004439.2:p.Gly778_Ser779insLeuProSer | |
| NR_110535.2:n.2571_2572insGCTCCCCAG |