Linked Data
ClinVar Variation Id:
1704
ClinVar RCV Id:
RCV000001773
dbSNP Id:
rs387906262
MyVariant Identifiers:
chr10:g.50732504dupT (hg19)
chr10:g.50732503_50732504insT (hg19)
chr10:g.49524458dupT (hg38)
chr10:g.49524457_49524458insT (hg38)
PubMed:
PMID:10196384
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49524463dup , CM000672.2:g.49524463dup | GRCh38 |
| NC_000010.10:g.50732509dup , CM000672.1:g.50732509dup | GRCh37 |
| NC_000010.9:g.50402515dup | NCBI36 |
| NG_009442.1:g.19644dup , LRG_465:g.19644dup | |
| NG_033155.1:g.4824dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355832.10:c.972dup MANE Select | ENSP00000348089.5:p.Glu325ArgfsTer? | |
| ENST00000447839.7:c.972dup MANE Plus Clinical | ENSP00000387966.2:p.Glu325ArgfsTer? | |
| ENST00000679596.1:c.*601dup | ENSP00000504862.1:n.*601dup | |
| ENST00000679811.1:n.1055dup | ||
| ENST00000680107.1:c.652+3959dup | ENSP00000505909.1:n.652+3959dup | |
| ENST00000680233.1:n.1065dup | ||
| ENST00000681632.1:n.1050dup | ||
| ENST00000681659.1:c.972dup | ENSP00000505631.1:p.Glu325ArgfsTer? | |
| ENST00000355832.9:c.972dup | ENSP00000348089.5:p.Glu325ArgfsTer? | |
| ENST00000447839.6:c.972dup | ENSP00000387966.2:p.Glu325ArgfsTer? | |
| ENST00000515869.1:c.972dup | ENSP00000423550.1:p.Glu325ArgfsTer? | |
| NM_000124.3:c.972dup | NP_000115.1:p.Glu325ArgfsTer? | |
| NM_001277058.1:c.972dup | NP_001263987.1:p.Glu325ArgfsTer? | |
| NM_001277059.1:c.972dup | NP_001263988.1:p.Glu325ArgfsTer? | |
| NM_001346440.1:c.972dup | NP_001333369.1:p.Glu325ArgfsTer? | |
| NM_000124.4:c.972dup MANE Select | NP_000115.1:p.Glu325ArgfsTer? | |
| NM_001277058.2:c.972dup MANE Plus Clinical | NP_001263987.1:p.Glu325ArgfsTer? | |
| NM_001277059.2:c.972dup | NP_001263988.1:p.Glu325ArgfsTer? | |
| NM_001346440.2:c.972dup | NP_001333369.1:p.Glu325ArgfsTer? |