Linked Data
ClinVar Variation Id:
338906
ClinVar RCV Id:
RCV000296804
dbSNP Id:
rs141075201
gnomAD v2:
20-56141217-A-ATGTGTG
gnomAD v3:
20-57566161-A-ATGTGTG
gnomAD v4:
20-57566161-A-ATGTGTG
MyVariant Identifiers:
chr20:g.56141248_56141253dupTGTGTG (hg19)
chr20:g.56141253_56141254insTGTGTG (hg19)
chr20:g.56141227_56141228insTGTGTG (hg19)
chr20:g.56141217_56141218insTGTGTG (hg19)
chr20:g.57566192_57566197dupTGTGTG (hg38)
chr20:g.57566197_57566198insTGTGTG (hg38)
chr20:g.57566171_57566172insTGTGTG (hg38)
chr20:g.57566161_57566162insTGTGTG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57566192_57566197dup , CM000682.2:g.57566192_57566197dup | GRCh38 |
| NC_000020.10:g.56141248_56141253dup , CM000682.1:g.56141248_56141253dup | GRCh37 |
| NC_000020.9:g.55574654_55574659dup | NCBI36 |
| NG_008205.1:g.10112_10117dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319441.6:c.*388_*393dup MANE Select | ENSP00000319814.4:n.*388_*393dup | |
| ENST00000319441.5:c.*388_*393dup | ENSP00000319814.4:n.*388_*393dup | |
| ENST00000467047.1:n.4899_4904dup | ||
| NM_002591.3:c.*388_*393dup | NP_002582.3:n.*388_*393dup | |
| XM_011528839.1:c.*388_*393dup | XP_011527141.1:n.*388_*393dup | |
| XM_024451888.1:c.*388_*393dup | XP_024307656.1:n.*388_*393dup | |
| NM_002591.4:c.*388_*393dup MANE Select | NP_002582.3:n.*388_*393dup |