Linked Data
ClinVar Variation Id:
1460363
dbSNP Id:
rs766004699
gnomAD v2:
1-53676241-T-TGGGCAGAGCTC
gnomAD v3:
1-53210569-T-TGGGCAGAGCTC
gnomAD v4:
1-53210569-T-TGGGCAGAGCTC
MyVariant Identifiers:
chr1:g.53676241_53676242insGGGCAGAGCTC (hg19)
chr1:g.53210569_53210570insGGGCAGAGCTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.53210570_53210580dup , CM000663.2:g.53210570_53210580dup | GRCh38 |
| NC_000001.10:g.53676242_53676252dup , CM000663.1:g.53676242_53676252dup | GRCh37 |
| NC_000001.9:g.53448830_53448840dup | NCBI36 |
| NG_008035.1:g.19142_19152dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371486.4:c.896_906dup MANE Select | ENSP00000360541.3:p.Arg303GlyfsTer8 | |
| ENST00000635862.1:c.896_906dup | ENSP00000490867.1:p.Arg303GlyfsTer8 | |
| ENST00000635888.1:c.*882_*892dup | ENSP00000490042.1:n.*882_*892dup | |
| ENST00000636239.1:c.*543_*553dup | ENSP00000490066.1:n.*543_*553dup | |
| ENST00000636867.1:c.896_906dup | ENSP00000489631.1:p.Arg303GlyfsTer8 | |
| ENST00000636891.1:c.896_906dup | ENSP00000490399.1:p.Arg303GlyfsTer8 | |
| ENST00000636935.1:c.341-2694_341-2684dup | ENSP00000489757.1:n.341-2694_341-2684dup | |
| ENST00000637252.1:c.896_906dup | ENSP00000490492.1:p.Arg303GlyfsTer8 | |
| ENST00000637726.1:n.3096_3106dup | ||
| ENST00000638135.1:c.*543_*553dup | ENSP00000489756.1:n.*543_*553dup | |
| ENST00000371486.3:c.896_906dup | ENSP00000360541.3:p.Arg303GlyfsTer8 | |
| NM_000098.2:c.896_906dup | NP_000089.1:p.Arg303GlyfsTer8 | |
| XM_005270484.1:c.896_906dup | XP_005270541.1:p.Arg303GlyfsTer8 | |
| NM_001330589.1:c.896_906dup | NP_001317518.1:p.Arg303GlyfsTer8 | |
| NM_000098.3:c.896_906dup MANE Select | NP_000089.1:p.Arg303GlyfsTer8 | |
| NM_001330589.2:c.896_906dup | NP_001317518.1:p.Arg303GlyfsTer8 |