Linked Data
dbSNP Id:
rs1566629201
gnomAD:
14:73637532 A / AACGACAG
MyVariant Identifiers:
chr14:g.73637535_73637536insACAGACG (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.73170828_73170834dup , CM000676.2:g.73170828_73170834dup | GRCh38 |
| NC_000014.8:g.73637536_73637542dup , CM000676.1:g.73637536_73637542dup | GRCh37 |
| NC_000014.7:g.72707289_72707295dup | NCBI36 |
| NG_007386.2:g.39358_39364dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000324501.10:c.119_125dup MANE Select | ENSP00000326366.5:p.Ser43GlnfsTer8 | |
| ENST00000324501.9:c.119_125dup | ENSP00000326366.5:p.Ser43GlnfsTer8 | |
| ENST00000357710.8:c.107_113dup | ENSP00000350342.4:p.Ser39GlnfsTer8 | |
| ENST00000394157.7:c.119_125dup | ENSP00000377712.3:p.Ser43GlnfsTer8 | |
| ENST00000394164.5:c.107_113dup | ENSP00000377719.1:p.Ser39GlnfsTer8 | |
| ENST00000406768.1:c.-158_-152dup | ENSP00000385948.1:n.-158_-152dup | |
| ENST00000553447.6:n.516_522dup | ||
| ENST00000553599.5:c.107_113dup | ENSP00000452477.1:p.Ser39GlnfsTer8 | |
| ENST00000553719.5:c.107_113dup | ENSP00000451674.1:p.Ser39GlnfsTer8 | |
| ENST00000553855.5:n.119_125dup | ENSP00000452242.1:p.Ser43GlnfsTer8 | |
| ENST00000554131.5:c.119_125dup | ENSP00000451915.1:p.Ser43GlnfsTer8 | |
| ENST00000555254.5:c.119_125dup | ENSP00000450652.1:p.Ser43GlnfsTer8 | |
| ENST00000555386.5:n.107_113dup | ENSP00000450845.1:p.Ser39GlnfsTer8 | |
| ENST00000556066.1:c.107_113dup | ENSP00000452267.1:p.Ser39GlnfsTer8 | |
| ENST00000556533.5:c.107_113dup | ENSP00000452128.1:p.Ser39GlnfsTer8 | |
| ENST00000556864.5:c.107_113dup | ENSP00000451588.1:p.Ser39GlnfsTer8 | |
| ENST00000556951.5:c.107_113dup | ENSP00000450551.1:p.Ser39GlnfsTer8 | |
| ENST00000557037.5:c.107_113dup | ENSP00000451347.1:p.Ser39GlnfsTer8 | |
| ENST00000557293.5:c.119_125dup | ENSP00000451880.1:p.Ser43GlnfsTer8 | |
| ENST00000557356.5:c.107_113dup | ENSP00000451498.1:p.Ser39GlnfsTer8 | |
| ENST00000557511.5:n.119_125dup | ENSP00000451429.1:p.Ser43GlnfsTer8 | |
| ENST00000559361.5:c.*63_*69dup | ENSP00000454156.1:n.*63_*69dup | |
| ENST00000560005.6:c.107_113dup | ENSP00000453466.1:p.Ser39GlnfsTer8 | |
| NM_000021.3:c.119_125dup | NP_000012.1:p.Ser43GlnfsTer8 | |
| NM_007318.2:c.107_113dup | NP_015557.2:p.Ser39GlnfsTer8 | |
| XM_005267864.1:c.119_125dup | XP_005267921.1:p.Ser43GlnfsTer8 | |
| XM_005267866.1:c.107_113dup | XP_005267923.1:p.Ser39GlnfsTer8 | |
| XM_011536971.1:c.119_125dup | XP_011535273.1:p.Ser43GlnfsTer8 | |
| XM_011536972.1:c.119_125dup | XP_011535274.1:p.Ser43GlnfsTer8 | |
| XM_011536973.1:c.107_113dup | XP_011535275.1:p.Ser39GlnfsTer8 | |
| XM_011536974.1:c.107_113dup | XP_011535276.1:p.Ser39GlnfsTer8 | |
| XM_005267864.3:c.119_125dup | XP_005267921.1:p.Ser43GlnfsTer8 | |
| XM_005267866.2:c.107_113dup | XP_005267923.1:p.Ser39GlnfsTer8 | |
| XM_011536972.2:c.119_125dup | XP_011535274.1:p.Ser43GlnfsTer8 | |
| XM_011536973.2:c.107_113dup | XP_011535275.1:p.Ser39GlnfsTer8 | |
| XM_011536974.2:c.107_113dup | XP_011535276.1:p.Ser39GlnfsTer8 | |
| NM_000021.4:c.119_125dup MANE Select | NP_000012.1:p.Ser43GlnfsTer8 | |
| NM_007318.3:c.107_113dup | NP_015557.2:p.Ser39GlnfsTer8 |