Linked Data
dbSNP Id:
rs1560421715
gnomAD v2:
4-6303903-A-AGGAGGACGACGTCAC
gnomAD v4:
4-6302176-A-AGGAGGACGACGTCAC
MyVariant Identifiers:
chr4:g.6303903_6303904insGGAGGACGACGTCAC (hg19)
chr4:g.6302176_6302177insGGAGGACGACGTCAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6302177_6302191dup , CM000666.2:g.6302177_6302191dup | GRCh38 |
| NC_000004.11:g.6303904_6303918dup , CM000666.1:g.6303904_6303918dup | GRCh37 |
| NC_000004.10:g.6354805_6354819dup | NCBI36 |
| NG_011700.1:g.37328_37342dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682275.1:c.2418_2432dup | ENSP00000507852.1:p.Thr811_Lys812insGluAs... | |
| ENST00000683395.1:c.2359_2373dup | ||
| ENST00000684087.1:c.2382_2396dup | ENSP00000506978.1:p.Thr799_Lys800insGluAs... | |
| ENST00000506362.2:c.2133_2147dup | ENSP00000424103.2:p.Thr716_Lys717insGluAs... | |
| ENST00000673991.1:c.2418_2432dup | ENSP00000501033.1:p.Thr811_Lys812insGluAs... | |
| ENST00000226760.5:c.2382_2396dup MANE Select | ENSP00000226760.1:p.Thr799_Lys800insGluAs... | |
| ENST00000503569.5:c.2382_2396dup | ENSP00000423337.1:p.Thr799_Lys800insGluAs... | |
| ENST00000507765.1:n.2567_2581dup | ||
| NM_001145853.1:c.2382_2396dup | NP_001139325.1:p.Thr799_Lys800insGluAspAs... | |
| NM_006005.3:c.2382_2396dup MANE Select | NP_005996.2:p.Thr799_Lys800insGluAspAspVa... | |
| XM_017008586.1:c.2391_2405dup | XP_016864075.1:p.Thr802_Lys803insGluAspAs... |