Linked Data
ClinVar Variation Id:
314843
ClinVar RCV Id:
RCV000266642
dbSNP Id:
rs397721425
gnomAD v2:
14-90509574-T-TAA
gnomAD v3:
14-90043230-T-TAA
gnomAD v4:
14-90043230-T-TAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.90043232_90043233dup , CM000676.2:g.90043232_90043233dup | GRCh38 |
| NC_000014.8:g.90509576_90509577dup , CM000676.1:g.90509576_90509577dup | GRCh37 |
| NC_000014.7:g.89579329_89579330dup | NCBI36 |
| NG_009164.1:g.92331_92332dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335725.9:c.*89_*90dup MANE Select | ENSP00000337353.4:n.*89_*90dup | |
| ENST00000335725.8:c.*89_*90dup | ENSP00000337353.4:n.*89_*90dup | |
| ENST00000393452.7:c.*192_*193dup | ENSP00000377098.3:n.*192_*193dup | |
| ENST00000393454.6:c.*89_*90dup | ENSP00000377099.2:n.*89_*90dup | |
| ENST00000545686.6:c.*1239_*1240dup | ENSP00000444587.2:n.*1239_*1240dup | |
| ENST00000554976.5:c.*1475_*1476dup | ENSP00000452042.1:n.*1475_*1476dup | |
| ENST00000555178.5:c.*1101_*1102dup | ENSP00000452363.1:n.*1101_*1102dup | |
| ENST00000555880.5:c.*70_*71dup | ENSP00000450628.1:n.*70_*71dup | |
| NM_001008744.1:c.*89_*90dup | NP_001008744.1:n.*89_*90dup | |
| NM_018319.3:c.*89_*90dup | NP_060789.2:n.*89_*90dup | |
| XM_005267847.2:c.*89_*90dup | XP_005267904.1:n.*89_*90dup | |
| XM_005267848.1:c.*89_*90dup | XP_005267905.1:n.*89_*90dup | |
| XM_006720197.2:c.*89_*90dup | XP_006720260.1:n.*89_*90dup | |
| XM_006720198.2:c.*89_*90dup | XP_006720261.1:n.*89_*90dup | |
| XM_006720199.1:c.*89_*90dup | XP_006720262.1:n.*89_*90dup | |
| XM_006720200.2:c.*89_*90dup | XP_006720263.1:n.*89_*90dup | |
| XM_011536941.1:c.*89_*90dup | XP_011535243.1:n.*89_*90dup | |
| XM_011536942.1:c.*89_*90dup | XP_011535244.1:n.*89_*90dup | |
| XM_011536943.1:c.*89_*90dup | XP_011535245.1:n.*89_*90dup | |
| XM_011536944.1:c.*70_*71dup | XP_011535246.1:n.*70_*71dup | |
| NM_001330205.1:c.*70_*71dup | NP_001317134.1:n.*70_*71dup | |
| XM_005267848.3:c.*89_*90dup | XP_005267905.1:n.*89_*90dup | |
| XM_006720197.4:c.*89_*90dup | XP_006720260.1:n.*89_*90dup | |
| XM_011536942.3:c.*89_*90dup | XP_011535244.1:n.*89_*90dup | |
| XM_011536944.2:c.*70_*71dup | XP_011535246.1:n.*70_*71dup | |
| XM_017021439.2:c.*89_*90dup | XP_016876928.1:n.*89_*90dup | |
| XM_017021440.2:c.*70_*71dup | XP_016876929.1:n.*70_*71dup | |
| XM_024449649.1:c.*89_*90dup | XP_024305417.1:n.*89_*90dup | |
| XM_024449650.1:c.*89_*90dup | XP_024305418.1:n.*89_*90dup | |
| XM_024449651.1:c.*89_*90dup | XP_024305419.1:n.*89_*90dup | |
| XM_024449652.1:c.*89_*90dup | XP_024305420.1:n.*89_*90dup | |
| XM_024449653.1:c.*89_*90dup | XP_024305421.1:n.*89_*90dup | |
| XM_024449654.1:c.*89_*90dup | XP_024305422.1:n.*89_*90dup | |
| XM_024449655.1:c.*89_*90dup | XP_024305423.1:n.*89_*90dup | |
| XM_024449656.1:c.*89_*90dup | XP_024305424.1:n.*89_*90dup | |
| XM_024449657.1:c.*89_*90dup | XP_024305425.1:n.*89_*90dup | |
| XM_024449658.1:c.*89_*90dup | XP_024305426.1:n.*89_*90dup | |
| XM_024449659.1:c.*70_*71dup | XP_024305427.1:n.*70_*71dup | |
| XR_001750427.2:n.2146_2147dup | ||
| XR_943492.3:n.2420_2421dup | ||
| NM_001008744.2:c.*89_*90dup | NP_001008744.1:n.*89_*90dup | |
| NM_001330205.2:c.*70_*71dup | NP_001317134.1:n.*70_*71dup | |
| NM_018319.4:c.*89_*90dup MANE Select | NP_060789.2:n.*89_*90dup |