Linked Data
ClinVar Variation Id:
1672871
ClinVar RCV Id:
RCV003089088
dbSNP Id:
rs772147656
gnomAD v4:
1-244864044-T-TTCCTCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.244864050_244864055dup , CM000663.2:g.244864050_244864055dup | GRCh38 |
| NC_000001.10:g.245027352_245027357dup , CM000663.1:g.245027352_245027357dup | GRCh37 |
| NC_000001.9:g.243093975_243093980dup | NCBI36 |
| NG_042184.1:g.5476_5481dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283179.14:c.258_263dup | ENSP00000283179.10:p.Glu88_Glu89insGluGlu | |
| ENST00000444376.7:c.258_263dup | ENSP00000393151.2:p.Glu88_Glu89insGluGlu | |
| ENST00000476241.2:n.443_448dup | ||
| ENST00000638475.1:c.42_47dup | ENSP00000491305.1:p.Glu16_Glu17insGluGlu | |
| ENST00000638952.1:n.489_494dup | ||
| ENST00000640218.2:c.258_263dup MANE Select | ENSP00000491215.1:p.Glu88_Glu89insGluGlu | |
| ENST00000640306.1:c.258_263dup | ENSP00000491685.1:p.Glu88_Glu89insGluGlu | |
| ENST00000649899.1:n.482_487dup | ||
| ENST00000283179.13:c.258_263dup | ENSP00000283179.9:p.Glu88_Glu89insGluGlu | |
| ENST00000444376.6:c.258_263dup | ENSP00000393151.2:p.Glu88_Glu89insGluGlu | |
| ENST00000476241.1:n.442_447dup | ||
| NM_004501.3:c.258_263dup | NP_004492.2:p.Glu88_Glu89insGluGlu | |
| NM_031844.2:c.258_263dup | NP_114032.2:p.Glu88_Glu89insGluGlu | |
| NM_031844.3:c.258_263dup MANE Select | NP_114032.2:p.Glu88_Glu89insGluGlu |