Linked Data
ClinVar Variation Id:
1019956
dbSNP Id:
rs760180391
ExAC:
20:34022012 T / TGCA
gnomAD v2:
20-34022012-T-TGCA
gnomAD v3:
20-35434214-T-TGCA
gnomAD v4:
20-35434214-T-TGCA
MyVariant Identifiers:
chr20:g.34022012_34022013insGCA (hg19)
chr20:g.35434214_35434215insGCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.35434217_35434219dup , CM000682.2:g.35434217_35434219dup | GRCh38 |
| NC_000020.10:g.34022015_34022017dup , CM000682.1:g.34022015_34022017dup | GRCh37 |
| NC_000020.9:g.33485429_33485431dup | NCBI36 |
| NG_008076.2:g.9003_9005dup | |
| NG_008076.3:g.25530_25532dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374369.8:c.1198_1200dup (GDF5) MANE Select | ENSP00000363489.3:p.Cys400_Ser401insCys | |
| ENST00000374369.7:c.1198_1200dup (GDF5) | ENSP00000363489.3:p.Cys400_Ser401insCys | |
| ENST00000374372.1:c.1198_1200dup (GDF5) | ENSP00000363492.1:p.Cys400_Ser401insCys | |
| ENST00000374375.1:c.59_61dup (GDF5-AS1) | ENSP00000363495.1:p.Gln20_Arg21insGln | |
| NM_000557.4:c.1198_1200dup (GDF5) | NP_000548.2:p.Cys400_Ser401insCys | |
| XM_011529075.1:c.1198_1200dup (GDF5) | XP_011527377.1:p.Cys400_Ser401insCys | |
| XM_011529076.1:c.1198_1200dup (GDF5) | XP_011527378.1:p.Cys400_Ser401insCys | |
| NM_001319138.1:c.1198_1200dup (GDF5) | NP_001306067.1:p.Cys400_Ser401insCys | |
| NM_001355428.1:c.59_61dup (GDF5-AS1) | NP_001342357.1:p.Gln20_Arg21insGln | |
| NM_000557.5:c.1198_1200dup (GDF5) MANE Select | NP_000548.2:p.Cys400_Ser401insCys | |
| NM_001319138.2:c.1198_1200dup (GDF5) | NP_001306067.1:p.Cys400_Ser401insCys | |
| NR_161326.1:n.501_503dup (GDF5-AS1) |