Linked Data
ClinVar Variation Id:
53417
dbSNP Id:
rs121908780
MyVariant Identifiers:
chr7:g.117232194_117232206delinsAGAAA (hg19)
chr7:g.117592140_117592152delinsAGAAA (hg38)
PubMed:
PMID:23974870
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117592140_117592152delinsAGAAA , CM000669.2:g.117592140_117592152delinsAGAAA | GRCh38 |
| NC_000007.13:g.117232194_117232206delinsAGAAA , CM000669.1:g.117232194_117232206delinsAGAAA | GRCh37 |
| NC_000007.12:g.117019430_117019442delinsAGAAA | NCBI36 |
| NG_016465.4:g.131357_131369delinsAGAAA , LRG_663:g.131357_131369delinsAGAAA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.1973_1985delinsAGAAA | ENSP00000497673.2:p.Arg658LysfsTer4 | |
| ENST00000647978.2:c.*1687_*1699delinsAGAAA | ENSP00000497658.1:n.*1687_*1699delinsAGAA... | |
| ENST00000649781.2:c.1790_1802delinsAGAAA | ENSP00000497203.1:p.Arg597LysfsTer4 | |
| ENST00000685018.2:c.1973_1985delinsAGAAA | ENSP00000510194.2:p.Arg658LysfsTer4 | |
| ENST00000687278.2:c.1973_1985delinsAGAAA | ENSP00000509593.2:p.Arg658LysfsTer4 | |
| ENST00000699585.1:c.1973_1985delinsAGAAA | ENSP00000514456.1:p.Arg658LysfsTer4 | |
| ENST00000699598.1:c.1973_1985delinsAGAAA | ENSP00000514467.1:p.Arg658LysfsTer4 | |
| ENST00000699599.1:c.1973_1985delinsAGAAA | ENSP00000514468.1:p.Arg658LysfsTer4 | |
| ENST00000699600.1:c.1973_1985delinsAGAAA | ENSP00000514469.1:p.Arg658LysfsTer4 | |
| ENST00000699601.1:c.*273_*285delinsAGAAA | ENSP00000514470.1:n.*273_*285delinsAGAAA | |
| ENST00000699602.1:c.1973_1985delinsAGAAA | ENSP00000514471.1:p.Arg658LysfsTer4 | |
| ENST00000699604.1:c.*1797_*1809delinsAGAAA | ENSP00000514472.1:n.*1797_*1809delinsAGAA... | |
| ENST00000699605.1:c.1547_1559delinsAGAAA | ENSP00000514473.1:p.Arg516LysfsTer4 | |
| ENST00000003084.11:c.1973_1985delinsAGAAA MANE Select | ENSP00000003084.6:p.Arg658LysfsTer4 | |
| ENST00000647978.1:c.*1687_*1699delinsAGAAA | ENSP00000497658.1:n.*1687_*1699delinsAGAA... | |
| ENST00000648260.1:c.1402-10686_1402-10674delinsAGAAA | ENSP00000497957.1:n.1402-10686_1402-10674... | |
| ENST00000649406.1:c.1790_1802delinsAGAAA | ENSP00000497965.1:p.Arg597LysfsTer4 | |
| ENST00000649781.1:c.1790_1802delinsAGAAA | ENSP00000497203.1:p.Arg597LysfsTer4 | |
| ENST00000003084.10:c.1973_1985delinsAGAAA | ENSP00000003084.6:p.Arg658LysfsTer4 | |
| ENST00000426809.5:c.1883_1895delinsAGAAA | ENSP00000389119.1:p.Arg628LysfsTer4 | |
| NM_000492.3:c.1973_1985delinsAGAAA , LRG_663t1:c.1973_1985delinsAGAAA | NP_000483.3:p.Arg658LysfsTer4 | |
| XM_011515751.1:c.2063_2075delinsAGAAA | XP_011514053.1:p.Arg688LysfsTer4 | |
| XM_011515752.1:c.2063_2075delinsAGAAA | XP_011514054.1:p.Arg688LysfsTer4 | |
| XM_011515753.1:c.1730_1742delinsAGAAA | XP_011514055.1:p.Arg577LysfsTer4 | |
| XM_011515754.1:c.1730_1742delinsAGAAA | XP_011514056.1:p.Arg577LysfsTer4 | |
| NM_000492.4:c.1973_1985delinsAGAAA MANE Select | NP_000483.3:p.Arg658LysfsTer4 |