Linked Data
ClinVar Variation Id:
2078356
dbSNP Id:
rs926500016
gnomAD v2:
17-12896242-C-CCCGCACCTG
gnomAD v3:
17-12992925-C-CCCGCACCTG
gnomAD v4:
17-12992925-C-CCCGCACCTG
MyVariant Identifiers:
chr17:g.12896242_12896243insCCGCACCTG (hg19)
chr17:g.12992925_12992926insCCGCACCTG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.12992931_12992939dup , CM000679.2:g.12992931_12992939dup | GRCh38 |
| NC_000017.10:g.12896248_12896256dup , CM000679.1:g.12896248_12896256dup | GRCh37 |
| NC_000017.9:g.12836973_12836981dup | NCBI36 |
| NG_015808.1:g.30131_30139dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338034.9:c.2365_2373dup MANE Select | ENSP00000337445.4:p.Arg791_Ala792insGlnValArg | |
| ENST00000338034.8:c.2365_2373dup | ENSP00000337445.4:p.Arg791_Ala792insGlnValArg | |
| ENST00000395962.6:c.2308_2316dup | ENSP00000379291.1:p.Arg772_Ala773insGlnValArg | |
| ENST00000426905.7:c.2245_2253dup | ENSP00000405223.3:p.Arg751_Ala752insGlnValArg | |
| ENST00000465825.5:n.2252_2260dup | ||
| ENST00000480891.5:n.2194_2202dup | ||
| ENST00000484122.5:n.3195_3203dup | ||
| ENST00000487229.6:n.1911_1919dup | ||
| ENST00000584650.5:c.1764_1772dup | ||
| NM_001165962.1:c.2245_2253dup | NP_001159434.1:p.Arg751_Ala752insGlnValArg | |
| NM_018127.6:c.2365_2373dup | NP_060597.4:p.Arg791_Ala792insGlnValArg | |
| NM_173717.1:c.2362_2370dup | NP_776065.1:p.Arg790_Ala791insGlnValArg | |
| XM_024450850.1:c.2524_2532dup | XP_024306618.1:p.Arg844_Ala845insGlnValArg | |
| XM_024450851.1:c.2446_2454dup | XP_024306619.1:p.Arg818_Ala819insGlnValArg | |
| XM_024450852.1:c.2443_2451dup | XP_024306620.1:p.Arg817_Ala818insGlnValArg | |
| XM_024450853.1:c.2440_2448dup | XP_024306621.1:p.Arg816_Ala817insGlnValArg | |
| XM_024450854.1:c.2404_2412dup | XP_024306622.1:p.Arg804_Ala805insGlnValArg | |
| XM_024450855.1:c.2323_2331dup | XP_024306623.1:p.Arg777_Ala778insGlnValArg | |
| XM_024450856.1:c.2242_2250dup | XP_024306624.1:p.Arg750_Ala751insGlnValArg | |
| XM_024450857.1:c.2242_2250dup | XP_024306625.1:p.Arg750_Ala751insGlnValArg | |
| XM_024450858.1:c.2161_2169dup | XP_024306626.1:p.Arg723_Ala724insGlnValArg | |
| XM_024450859.1:c.2158_2166dup | XP_024306627.1:p.Arg722_Ala723insGlnValArg | |
| XM_024450860.1:c.2083_2091dup | XP_024306628.1:p.Arg697_Ala698insGlnValArg | |
| XM_024450861.1:c.2083_2091dup | XP_024306629.1:p.Arg697_Ala698insGlnValArg | |
| XM_024450862.1:c.2080_2088dup | XP_024306630.1:p.Arg696_Ala697insGlnValArg | |
| NM_018127.7:c.2365_2373dup MANE Select | NP_060597.4:p.Arg791_Ala792insGlnValArg | |
| NM_001165962.2:c.2245_2253dup | NP_001159434.1:p.Arg751_Ala752insGlnValArg | |
| NM_173717.2:c.2362_2370dup | NP_776065.1:p.Arg790_Ala791insGlnValArg |