Linked Data
ClinVar Variation Id:
53563
dbSNP Id:
rs397508431
gnomAD v2:
7-117243689-G-GGA
gnomAD v4:
7-117603635-G-GGA
MyVariant Identifiers:
chr7:g.117243691_117243692dupAG (hg19)
chr7:g.117243689_117243690insGA (hg19)
chr7:g.117603637_117603638dupAG (hg38)
chr7:g.117603635_117603636insGA (hg38)
PubMed:
PMID:23974870
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117603637_117603638dup , CM000669.2:g.117603637_117603638dup | GRCh38 |
| NC_000007.13:g.117243691_117243692dup , CM000669.1:g.117243691_117243692dup | GRCh37 |
| NC_000007.12:g.117030927_117030928dup | NCBI36 |
| NG_016465.4:g.142854_142855dup , LRG_663:g.142854_142855dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.2763_2764dup | ENSP00000497673.2:p.Val922GlufsTer2 | |
| ENST00000647978.2:c.*2477_*2478dup | ENSP00000497658.1:n.*2477_*2478dup | |
| ENST00000649781.2:c.2580_2581dup | ENSP00000497203.1:p.Val861GlufsTer2 | |
| ENST00000685018.2:c.2763_2764dup | ENSP00000510194.2:p.Val922GlufsTer2 | |
| ENST00000687278.2:c.2763_2764dup | ENSP00000509593.2:p.Val922GlufsTer2 | |
| ENST00000699585.1:c.2763_2764dup | ENSP00000514456.1:p.Val922GlufsTer2 | |
| ENST00000699598.1:c.2763_2764dup | ENSP00000514467.1:p.Val922GlufsTer2 | |
| ENST00000699599.1:c.2763_2764dup | ENSP00000514468.1:p.Val922GlufsTer2 | |
| ENST00000699600.1:c.2763_2764dup | ENSP00000514469.1:p.Val922GlufsTer2 | |
| ENST00000699601.1:c.*1063_*1064dup | ENSP00000514470.1:n.*1063_*1064dup | |
| ENST00000699602.1:c.2763_2764dup | ENSP00000514471.1:p.Val922GlufsTer2 | |
| ENST00000699604.1:c.*2587_*2588dup | ENSP00000514472.1:n.*2587_*2588dup | |
| ENST00000699605.1:c.2337_2338dup | ENSP00000514473.1:p.Val780GlufsTer2 | |
| ENST00000687278.1:c.354_355dup | ENSP00000509593.1:p.Val119GlufsTer2 | |
| ENST00000003084.11:c.2763_2764dup MANE Select | ENSP00000003084.6:p.Val922GlufsTer2 | |
| ENST00000647720.1:c.413_414dup | ||
| ENST00000648260.1:c.1545_1546dup | ENSP00000497957.1:p.Val516GlufsTer2 | |
| ENST00000649406.1:c.2580_2581dup | ENSP00000497965.1:p.Val861GlufsTer2 | |
| ENST00000649781.1:c.2580_2581dup | ENSP00000497203.1:p.Val861GlufsTer2 | |
| ENST00000003084.10:c.2763_2764dup | ENSP00000003084.6:p.Val922GlufsTer2 | |
| ENST00000426809.5:c.2673_2674dup | ENSP00000389119.1:p.Val892GlufsTer2 | |
| NM_000492.3:c.2763_2764dup , LRG_663t1:c.2763_2764dup | NP_000483.3:p.Val922GlufsTer2 | |
| XM_011515751.1:c.2853_2854dup | XP_011514053.1:p.Val952GlufsTer2 | |
| XM_011515752.1:c.2853_2854dup | XP_011514054.1:p.Val952GlufsTer2 | |
| XM_011515753.1:c.2520_2521dup | XP_011514055.1:p.Val841GlufsTer2 | |
| XM_011515754.1:c.2520_2521dup | XP_011514056.1:p.Val841GlufsTer2 | |
| NM_000492.4:c.2763_2764dup MANE Select | NP_000483.3:p.Val922GlufsTer2 |