Linked Data
ClinVar Variation Id:
370886
ClinVar RCV Id:
RCV000409885
dbSNP Id:
rs1057516843
gnomAD v4:
17-7222782-G-GT
MyVariant Identifiers:
chr17:g.7126103dupT (hg19)
chr17:g.7126101_7126102insT (hg19)
chr17:g.7222784dupT (hg38)
chr17:g.7222782_7222783insT (hg38)
PubMed:
PMID:25242572
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222784dup , CM000679.2:g.7222784dup | GRCh38 |
| NC_000017.10:g.7126103dup , CM000679.1:g.7126103dup | GRCh37 |
| NC_000017.9:g.7066827dup | NCBI36 |
| NG_007975.1:g.7951dup | |
| NG_008391.2:g.2268dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356839.10:c.996dup MANE Select | ENSP00000349297.5:p.Ala333CysfsTer26 | |
| ENST00000322910.9:c.*951dup | ENSP00000325395.5:n.*951dup | |
| ENST00000350303.9:c.930dup | ENSP00000344152.5:p.Ala311CysfsTer26 | |
| ENST00000356839.9:c.996dup | ENSP00000349297.5:p.Ala333CysfsTer26 | |
| ENST00000543245.6:c.1065dup | ENSP00000438689.2:p.Ala356CysfsTer26 | |
| ENST00000578824.5:n.145dup | ||
| ENST00000581378.5:c.714dup | ||
| ENST00000582379.1:n.380dup | ||
| ENST00000583858.5:c.25dup | ||
| NM_000018.3:c.996dup | NP_000009.1:p.Ala333CysfsTer26 | |
| NM_001033859.2:c.930dup | NP_001029031.1:p.Ala311CysfsTer26 | |
| NM_001270447.1:c.1065dup | NP_001257376.1:p.Ala356CysfsTer26 | |
| NM_001270448.1:c.768dup | NP_001257377.1:p.Ala257CysfsTer26 | |
| XM_006721516.2:c.996dup | XP_006721579.2:p.Ala333CysfsTer26 | |
| XM_011523829.1:c.996dup | XP_011522131.1:p.Ala333CysfsTer26 | |
| XM_011523830.1:c.996dup | XP_011522132.1:p.Ala333CysfsTer26 | |
| XR_934021.1:n.1103dup | ||
| XR_934022.1:n.1103dup | ||
| XR_934023.1:n.1103dup | ||
| XM_006721516.3:c.996dup | XP_006721579.2:p.Ala333CysfsTer26 | |
| XM_011523829.2:c.996dup | XP_011522131.1:p.Ala333CysfsTer26 | |
| XM_011523830.2:c.996dup | XP_011522132.1:p.Ala333CysfsTer26 | |
| XM_024450741.1:c.996dup | XP_024306509.1:p.Ala333CysfsTer26 | |
| XR_934021.2:n.1055dup | ||
| XR_934022.2:n.1055dup | ||
| XR_934023.2:n.1055dup | ||
| NM_000018.4:c.996dup MANE Select | NP_000009.1:p.Ala333CysfsTer26 | |
| NM_001033859.3:c.930dup | NP_001029031.1:p.Ala311CysfsTer26 | |
| NM_001270447.2:c.1065dup | NP_001257376.1:p.Ala356CysfsTer26 | |
| NM_001270448.2:c.768dup | NP_001257377.1:p.Ala257CysfsTer26 |