Linked Data
ClinVar Variation Id:
91404
dbSNP Id:
rs398122970
MyVariant Identifiers:
chr17:g.8025173_8025182dupGGGGCGGTTT (hg19)
chr17:g.8025172_8025173insGGGGCGGTTT (hg19)
chr17:g.8121855_8121864dupGGGGCGGTTT (hg38)
chr17:g.8121854_8121855insGGGGCGGTTT (hg38)
PubMed:
PMID:23897666
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8121861_8121870dup , CM000679.2:g.8121861_8121870dup | GRCh38 |
| NC_000017.10:g.8025179_8025188dup , CM000679.1:g.8025179_8025188dup | GRCh37 |
| NC_000017.9:g.7965904_7965913dup | NCBI36 |
| NG_015807.1:g.2053_2062dup | |
| NG_015816.1:g.7229_7238dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000541682.7:c.400_409dup MANE Select | ENSP00000446205.2:p.Arg137GlnfsTer? | |
| ENST00000317814.8:c.385_394dup | ENSP00000314774.4:p.Arg132GlnfsTer? | |
| ENST00000541682.6:c.400_409dup | ENSP00000446205.2:p.Arg137GlnfsTer? | |
| ENST00000577735.1:c.376_385dup | ENSP00000462491.1:p.Arg129GlnfsTer? | |
| NM_001165967.1:c.400_409dup | NP_001159439.1:p.Arg137GlnfsTer? | |
| NM_032580.3:c.385_394dup | NP_115969.2:p.Arg132GlnfsTer? | |
| XM_011524038.1:c.505_514dup | XP_011522340.1:p.Arg172GlnfsTer? | |
| XM_011524039.1:c.496_505dup | XP_011522341.1:p.Arg169GlnfsTer? | |
| XM_011524040.1:c.496_505dup | XP_011522342.1:p.Arg169GlnfsTer? | |
| XM_011524041.1:c.487_496dup | XP_011522343.1:p.Arg166GlnfsTer? | |
| XM_011524042.1:c.358_367dup | XP_011522344.1:p.Arg123GlnfsTer? | |
| XR_934203.1:n.69+2047_69+2056dup | ||
| XM_017025232.1:c.505_514dup | XP_016880721.1:p.Arg172GlnfsTer? | |
| XM_024451007.1:c.505_514dup | XP_024306775.1:p.Arg172GlnfsTer? | |
| NM_001165967.2:c.400_409dup MANE Select | NP_001159439.1:p.Arg137GlnfsTer? | |
| NM_032580.4:c.385_394dup | NP_115969.2:p.Arg132GlnfsTer? |