Linked Data
ClinVar Variation Id:
698635
dbSNP Id:
rs746705490
ExAC:
1:55505603 G / GGAGGAC
gnomAD v2:
1-55505603-G-GGAGGAC
gnomAD v3:
1-55039930-G-GGAGGAC
gnomAD v4:
1-55039930-G-GGAGGAC
MyVariant Identifiers:
chr1:g.55505603_55505604insGAGGAC (hg19)
chr1:g.55039930_55039931insGAGGAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55039938_55039943dup , CM000663.2:g.55039938_55039943dup | GRCh38 |
| NC_000001.10:g.55505611_55505616dup , CM000663.1:g.55505611_55505616dup | GRCh37 |
| NC_000001.9:g.55278199_55278204dup | NCBI36 |
| NG_009061.1:g.5392_5397dup , LRG_275:g.5392_5397dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.101_106dup | ENSP00000501161.2:p.Asp35_Gly36insGluAsp | |
| ENST00000710286.1:c.458_463dup | ENSP00000518176.1:p.Asp154_Gly155insGluAsp | |
| ENST00000673726.1:c.101_106dup | ENSP00000501004.1:p.Asp35_Gly36insGluAsp | |
| ENST00000302118.5:c.101_106dup MANE Select | ENSP00000303208.5:p.Asp35_Gly36insGluAsp | |
| NM_174936.3:c.101_106dup , LRG_275t1:c.101_106dup | NP_777596.2:p.Asp35_Gly36insGluAsp | |
| NM_174936.4:c.101_106dup MANE Select | NP_777596.2:p.Asp35_Gly36insGluAsp |