Linked Data
ClinVar Variation Id:
35837
dbSNP Id:
rs121908799
MyVariant Identifiers:
chr7:g.117232272_117232273delinsG (hg19)
chr7:g.117592218_117592219delinsG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117592218_117592219delinsG , CM000669.2:g.117592218_117592219delinsG | GRCh38 |
| NC_000007.13:g.117232272_117232273delinsG , CM000669.1:g.117232272_117232273delinsG | GRCh37 |
| NC_000007.12:g.117019508_117019509delinsG | NCBI36 |
| NG_016465.4:g.131435_131436delinsG , LRG_663:g.131435_131436delinsG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.2051_2052delinsG | ENSP00000497673.2:p.Lys684SerfsTer? | |
| ENST00000647978.2:c.*1765_*1766delinsG | ENSP00000497658.1:n.*1765_*1766delinsG | |
| ENST00000649781.2:c.1868_1869delinsG | ENSP00000497203.1:p.Lys623SerfsTer? | |
| ENST00000685018.2:c.2051_2052delinsG | ENSP00000510194.2:p.Lys684SerfsTer? | |
| ENST00000687278.2:c.2051_2052delinsG | ENSP00000509593.2:p.Lys684SerfsTer? | |
| ENST00000699585.1:c.2051_2052delinsG | ENSP00000514456.1:p.Lys684SerfsTer? | |
| ENST00000699598.1:c.2051_2052delinsG | ENSP00000514467.1:p.Lys684SerfsTer? | |
| ENST00000699599.1:c.2051_2052delinsG | ENSP00000514468.1:p.Lys684SerfsTer? | |
| ENST00000699600.1:c.2051_2052delinsG | ENSP00000514469.1:p.Lys684SerfsTer? | |
| ENST00000699601.1:c.*351_*352delinsG | ENSP00000514470.1:n.*351_*352delinsG | |
| ENST00000699602.1:c.2051_2052delinsG | ENSP00000514471.1:p.Lys684SerfsTer? | |
| ENST00000699604.1:c.*1875_*1876delinsG | ENSP00000514472.1:n.*1875_*1876delinsG | |
| ENST00000699605.1:c.1625_1626delinsG | ENSP00000514473.1:p.Lys542SerfsTer? | |
| ENST00000003084.11:c.2051_2052delinsG MANE Select | ENSP00000003084.6:p.Lys684SerfsTer? | |
| ENST00000647978.1:c.*1765_*1766delinsG | ENSP00000497658.1:n.*1765_*1766delinsG | |
| ENST00000648260.1:c.1402-10608_1402-10607delinsG | ENSP00000497957.1:n.1402-10608_1402-10607... | |
| ENST00000649406.1:c.1868_1869delinsG | ENSP00000497965.1:p.Lys623SerfsTer? | |
| ENST00000649781.1:c.1868_1869delinsG | ENSP00000497203.1:p.Lys623SerfsTer? | |
| ENST00000003084.10:c.2051_2052delinsG | ENSP00000003084.6:p.Lys684SerfsTer? | |
| ENST00000426809.5:c.1961_1962delinsG | ENSP00000389119.1:p.Lys654SerfsTer? | |
| NM_000492.3:c.2051_2052delinsG , LRG_663t1:c.2051_2052delinsG | NP_000483.3:p.Lys684SerfsTer? | |
| XM_011515751.1:c.2141_2142delinsG | XP_011514053.1:p.Lys714SerfsTer? | |
| XM_011515752.1:c.2141_2142delinsG | XP_011514054.1:p.Lys714SerfsTer? | |
| XM_011515753.1:c.1808_1809delinsG | XP_011514055.1:p.Lys603SerfsTer? | |
| XM_011515754.1:c.1808_1809delinsG | XP_011514056.1:p.Lys603SerfsTer? | |
| NM_000492.4:c.2051_2052delinsG MANE Select | NP_000483.3:p.Lys684SerfsTer? |