Linked Data
ClinVar Variation Id:
402826
ClinVar RCV Id:
RCV000454930
dbSNP Id:
rs35953031
ExAC:
14:89087278 T / TA
gnomAD v2:
14-89087278-T-TA
gnomAD v3:
14-88620934-T-TA
gnomAD v4:
14-88620934-T-TA
MyVariant Identifiers:
chr14:g.89087279dupA (hg19)
chr14:g.89087295_89087296insA (hg19)
chr14:g.89087282_89087283insA (hg19)
chr14:g.89087281_89087282insA (hg19)
chr14:g.89087278_89087279insA (hg19)
chr14:g.88620935dupA (hg38)
chr14:g.88620951_88620952insA (hg38)
chr14:g.88620937_88620938insA (hg38)
chr14:g.88620934_88620935insA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.88620951dup , CM000676.2:g.88620951dup | GRCh38 |
| NC_000014.8:g.89087295dup , CM000676.1:g.89087295dup | GRCh37 |
| NC_000014.7:g.88157048dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000554922.6:c.5203-9dup (EML5) MANE Select | ENSP00000451998.1:n.5203-9dup | |
| ENST00000251038.10:c.*9200dup (ZC3H14) MANE Select | ENSP00000251038.5:n.*9200dup | |
| ENST00000251038.9:c.*9200dup (ZC3H14) | ENSP00000251038.5:n.*9200dup | |
| ENST00000380664.9:c.5179-9dup (EML5) | ENSP00000370039.5:n.5179-9dup | |
| ENST00000553526.5:c.1922-9dup (EML5) | ENSP00000450965.1:n.1922-9dup | |
| ENST00000554922.5:c.5203-9dup (EML5) | ENSP00000451998.1:n.5203-9dup | |
| ENST00000555823.1:c.526-12dup (EML5) | ENSP00000452030.1:n.526-12dup | |
| NM_183387.2:c.5203-9dup (EML5) | NP_899243.1:n.5203-9dup | |
| XM_006720070.2:c.5179-9dup (EML5) | XP_006720133.1:n.5179-9dup | |
| XM_011536528.1:c.5203-9dup (EML5) | XP_011534830.1:n.5203-9dup | |
| XM_011536529.1:c.5203-12dup (EML5) | XP_011534831.1:n.5203-12dup | |
| XM_011536530.1:c.5194-9dup (EML5) | XP_011534832.1:n.5194-9dup | |
| XM_011536531.1:c.5179-9dup (EML5) | XP_011534833.1:n.5179-9dup | |
| XM_011536532.1:c.5179-9dup (EML5) | XP_011534834.1:n.5179-9dup | |
| XM_011536533.1:c.5065-9dup (EML5) | XP_011534835.1:n.5065-9dup | |
| XM_011536534.1:c.5026-9dup (EML5) | XP_011534836.1:n.5026-9dup | |
| XM_011536537.1:c.2479-9dup (EML5) | XP_011534839.1:n.2479-9dup | |
| NM_183387.3:c.5203-9dup (EML5) MANE Select | NP_899243.1:n.5203-9dup | |
| XM_006720070.4:c.5179-9dup (EML5) | XP_006720133.1:n.5179-9dup | |
| XM_011536528.3:c.5203-9dup (EML5) | XP_011534830.1:n.5203-9dup | |
| XM_011536530.3:c.5194-9dup (EML5) | XP_011534832.1:n.5194-9dup | |
| XM_011536531.3:c.5179-9dup (EML5) | XP_011534833.1:n.5179-9dup | |
| XM_011536532.3:c.5179-9dup (EML5) | XP_011534834.1:n.5179-9dup | |
| XM_011536533.3:c.5065-9dup (EML5) | XP_011534835.1:n.5065-9dup | |
| XM_011536534.3:c.5026-9dup (EML5) | XP_011534836.1:n.5026-9dup | |
| XM_017021062.2:c.5203-9dup (EML5) | XP_016876551.1:n.5203-9dup | |
| XM_017021063.2:c.5182-9dup (EML5) | XP_016876552.1:n.5182-9dup | |
| XM_017021064.2:c.5089-9dup (EML5) | XP_016876553.1:n.5089-9dup | |
| XM_017021065.2:c.5158-9dup (EML5) | XP_016876554.1:n.5158-9dup | |
| XM_017021066.2:c.5035-9dup (EML5) | XP_016876555.1:n.5035-9dup | |
| XM_017021067.2:c.5032-9dup (EML5) | XP_016876556.1:n.5032-9dup | |
| XM_017021068.2:c.5029-9dup (EML5) | XP_016876557.1:n.5029-9dup | |
| XM_017021069.2:c.5026-9dup (EML5) | XP_016876558.1:n.5026-9dup | |
| XR_001750180.2:n.5233-9dup (EML5) | ||
| XR_001750181.2:n.5248-9dup (EML5) | ||
| XR_001750182.2:n.5229-9dup (EML5) | ||
| NM_024824.5:c.*9200dup (ZC3H14) MANE Select | NP_079100.2:n.*9200dup | |
| NM_001160103.2:c.*9200dup (ZC3H14) | NP_001153575.1:n.*9200dup | |
| NM_001160104.2:c.*9200dup (ZC3H14) | NP_001153576.1:n.*9200dup | |
| NM_001326295.2:c.*9200dup (ZC3H14) | NP_001313224.1:n.*9200dup | |
| NM_001326296.2:c.*9200dup (ZC3H14) | NP_001313225.1:n.*9200dup | |
| NM_001326297.2:c.*9200dup (ZC3H14) | NP_001313226.1:n.*9200dup | |
| NM_001326298.2:c.*9200dup (ZC3H14) | NP_001313227.1:n.*9200dup | |
| NM_001326299.2:c.*9200dup (ZC3H14) | NP_001313228.1:n.*9200dup | |
| NM_001326300.2:c.*9200dup (ZC3H14) | NP_001313229.1:n.*9200dup | |
| NM_001326301.2:c.*9200dup (ZC3H14) | NP_001313230.1:n.*9200dup | |
| NM_001326302.2:c.*9200dup (ZC3H14) | NP_001313231.1:n.*9200dup | |
| NM_001326303.2:c.*9200dup (ZC3H14) | NP_001313232.1:n.*9200dup | |
| NM_001326304.2:c.*9200dup (ZC3H14) | NP_001313233.1:n.*9200dup | |
| NM_001326305.2:c.*9200dup (ZC3H14) | NP_001313234.1:n.*9200dup | |
| NM_001326306.2:c.*9200dup (ZC3H14) | NP_001313235.1:n.*9200dup | |
| NM_001326307.2:c.*9200dup (ZC3H14) | NP_001313236.1:n.*9200dup | |
| NM_001326308.2:c.*9200dup (ZC3H14) | NP_001313237.1:n.*9200dup | |
| NM_001326309.2:c.*9200dup (ZC3H14) | NP_001313238.1:n.*9200dup | |
| NM_001326310.2:c.*9200dup (ZC3H14) | NP_001313239.1:n.*9200dup | |
| NM_001326311.2:c.*9200dup (ZC3H14) | NP_001313240.1:n.*9200dup | |
| NM_001326312.2:c.*9200dup (ZC3H14) | NP_001313241.1:n.*9200dup | |
| NM_001326313.2:c.*9200dup (ZC3H14) | NP_001313242.1:n.*9200dup | |
| NM_001326314.2:c.*9200dup (ZC3H14) | NP_001313243.1:n.*9200dup | |
| NM_001326315.2:c.*9200dup (ZC3H14) | NP_001313244.1:n.*9200dup | |
| NM_207660.4:c.*9200dup (ZC3H14) | NP_997543.1:n.*9200dup | |
| NM_207662.4:c.*9200dup (ZC3H14) | NP_997545.2:n.*9200dup | |
| NR_136936.2:n.11348dup (ZC3H14) | ||
| NM_001326316.2:c.*9200dup (ZC3H14) | NP_001313245.1:n.*9200dup | |
| NM_001385116.1:c.5194-9dup (EML5) | NP_001372045.1:n.5194-9dup | |
| NM_207661.3:c.*9200dup (ZC3H14) | NP_997544.1:n.*9200dup |