Linked Data
ClinVar Variation Id:
372237
ClinVar RCV Id:
RCV000412574
dbSNP Id:
rs1057519416
gnomAD v2:
5-110074985-G-GC
gnomAD v3:
5-110739284-G-GC
gnomAD v4:
5-110739284-G-GC
MyVariant Identifiers:
chr5:g.110074986dupC (hg19)
chr5:g.110074985_110074986insC (hg19)
chr5:g.110739285dupC (hg38)
chr5:g.110739284_110739285insC (hg38)
PubMed:
PMID:26168012
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.110739285dup , CM000667.2:g.110739285dup | GRCh38 |
| NC_000005.9:g.110074986dup , CM000667.1:g.110074986dup | GRCh37 |
| NC_000005.8:g.110102885dup | NCBI36 |
| NG_051334.1:g.6150dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355943.8:c.166dup MANE Select | ENSP00000348211.3:p.His56ProfsTer? | |
| ENST00000355943.7:c.166dup | ENSP00000348211.3:p.His56ProfsTer? | |
| ENST00000447245.6:c.166dup | ENSP00000399717.2:p.His56ProfsTer? | |
| ENST00000508781.5:n.112+1038dup | ||
| ENST00000513807.5:c.-204+1038dup | ENSP00000421134.1:n.-204+1038dup | |
| NM_001303249.1:c.166dup | NP_001290178.1:p.His56ProfsTer? | |
| NM_001303250.1:c.10+1038dup | NP_001290179.1:n.10+1038dup | |
| NM_138773.2:c.166dup | NP_620128.1:p.His56ProfsTer? | |
| XM_011543708.1:c.166dup | XP_011542010.1:p.His56ProfsTer? | |
| NM_001303249.2:c.166dup | NP_001290178.1:p.His56ProfsTer? | |
| NM_001303250.2:c.10+1038dup | NP_001290179.1:n.10+1038dup | |
| NM_138773.3:c.166dup | NP_620128.1:p.His56ProfsTer? | |
| NR_138151.1:n.314dup | ||
| NM_138773.4:c.166dup MANE Select | NP_620128.1:p.His56ProfsTer? | |
| NM_001303249.3:c.166dup | NP_001290178.1:p.His56ProfsTer? | |
| NM_001303250.3:c.10+1038dup | NP_001290179.1:n.10+1038dup | |
| NR_138151.2:n.279dup |