Linked Data
ClinVar Variation Id:
243030
dbSNP Id:
rs762368691
ExAC:
17:4805974 T / TC
gnomAD v2:
17-4805974-T-TC
gnomAD v3:
17-4902679-T-TC
gnomAD v4:
17-4902679-T-TC
MyVariant Identifiers:
chr17:g.4805975dupC (hg19)
chr17:g.4805974_4805975insC (hg19)
chr17:g.4902680dupC (hg38)
chr17:g.4902679_4902680insC (hg38)
PubMed:
PMID:20301347
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4902682dup , CM000679.2:g.4902682dup | GRCh38 |
| NC_000017.10:g.4805977dup , CM000679.1:g.4805977dup | GRCh37 |
| NC_000017.9:g.4746756dup | NCBI36 |
| NG_008029.2:g.5396dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381365.4:c.*2149dup (C17orf107) MANE Select | ENSP00000370770.3:n.*2149dup | |
| ENST00000649488.2:c.130dup (CHRNE) MANE Select | ENSP00000497829.1:p.Glu44GlyfsTer3 | |
| ENST00000649830.1:c.-804dup (CHRNE) | ENSP00000496907.1:n.-804dup | |
| ENST00000293780.4:c.130dup (CHRNE) | ENSP00000293780.4:p.Glu44GlyfsTer3 | |
| ENST00000381365.3:c.*2149dup (C17orf107) | ENSP00000370770.3:n.*2149dup | |
| NM_000080.3:c.130dup (CHRNE) | NP_000071.1:p.Glu44GlyfsTer3 | |
| NM_001145536.1:c.*2149dup (C17orf107) | NP_001139008.1:n.*2149dup | |
| XM_011523612.1:c.546+2176dup (C17orf107) | XP_011521914.1:n.546+2176dup | |
| XM_011523631.1:c.130dup (CHRNE) | XP_011521933.1:p.Glu44GlyfsTer3 | |
| NM_000080.4:c.130dup (CHRNE) MANE Select | NP_000071.1:p.Glu44GlyfsTer3 | |
| XM_017024115.1:c.94dup (CHRNE) | XP_016879604.1:p.Glu32GlyfsTer3 | |
| XR_001752421.1:n.975dup (CHRNE) | ||
| NM_001145536.2:c.*2149dup (C17orf107) MANE Select | NP_001139008.1:n.*2149dup |