Linked Data
ClinVar Variation Id:
53163
ClinVar RCV Id:
RCV001009438
dbSNP Id:
rs397508140
MyVariant Identifiers:
chr7:g.117180292_117180303dupATTCACCACCAT (hg19)
chr7:g.117540238_117540249dupATTCACCACCAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117540238_117540249dup , CM000669.2:g.117540238_117540249dup | GRCh38 |
| NC_000007.13:g.117180292_117180303dup , CM000669.1:g.117180292_117180303dup | GRCh37 |
| NC_000007.12:g.116967528_116967539dup | NCBI36 |
| NG_016465.4:g.79455_79466dup , LRG_663:g.79455_79466dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.1008_1019dup | ENSP00000497673.2:p.Ile340_Ser341insPheTh... | |
| ENST00000647978.2:c.*905_*916dup | ENSP00000497658.1:n.*905_*916dup | |
| ENST00000649781.2:c.1008_1019dup | ENSP00000497203.1:p.Ile340_Ser341insPheTh... | |
| ENST00000685018.2:c.1008_1019dup | ENSP00000510194.2:p.Ile340_Ser341insPheTh... | |
| ENST00000687278.2:c.1008_1019dup | ENSP00000509593.2:p.Ile340_Ser341insPheTh... | |
| ENST00000699585.1:c.1008_1019dup | ENSP00000514456.1:p.Ile340_Ser341insPheTh... | |
| ENST00000699596.1:c.1008_1019dup | ENSP00000514465.1:p.Ile340_Ser341insPheTh... | |
| ENST00000699597.1:c.1008_1019dup | ENSP00000514466.1:p.Ile340_Ser341insPheTh... | |
| ENST00000699598.1:c.1008_1019dup | ENSP00000514467.1:p.Ile340_Ser341insPheTh... | |
| ENST00000699599.1:c.1008_1019dup | ENSP00000514468.1:p.Ile340_Ser341insPheTh... | |
| ENST00000699600.1:c.1008_1019dup | ENSP00000514469.1:p.Ile340_Ser341insPheTh... | |
| ENST00000699601.1:c.1008_1019dup | ENSP00000514470.1:p.Ile340_Ser341insPheTh... | |
| ENST00000699602.1:c.1008_1019dup | ENSP00000514471.1:p.Ile340_Ser341insPheTh... | |
| ENST00000699604.1:c.*832_*843dup | ENSP00000514472.1:n.*832_*843dup | |
| ENST00000699605.1:c.765_776dup | ENSP00000514473.1:p.Ile259_Ser260insPheTh... | |
| ENST00000003084.11:c.1008_1019dup MANE Select | ENSP00000003084.6:p.Ile340_Ser341insPheTh... | |
| ENST00000647978.1:c.*905_*916dup | ENSP00000497658.1:n.*905_*916dup | |
| ENST00000648260.1:c.1008_1019dup | ENSP00000497957.1:p.Ile340_Ser341insPheTh... | |
| ENST00000649406.1:c.1008_1019dup | ENSP00000497965.1:p.Ile340_Ser341insPheTh... | |
| ENST00000649781.1:c.1008_1019dup | ENSP00000497203.1:p.Ile340_Ser341insPheTh... | |
| ENST00000673785.1:c.765_776dup | ENSP00000501235.1:p.Ile259_Ser260insPheTh... | |
| ENST00000003084.10:c.1008_1019dup | ENSP00000003084.6:p.Ile340_Ser341insPheTh... | |
| ENST00000426809.5:c.918_929dup | ENSP00000389119.1:p.Ile310_Ser311insPheTh... | |
| NM_000492.3:c.1008_1019dup , LRG_663t1:c.1008_1019dup | NP_000483.3:p.Ile340_Ser341insPheThrThrIl... | |
| XM_011515751.1:c.1098_1109dup | XP_011514053.1:p.Ile370_Ser371insPheThrTh... | |
| XM_011515752.1:c.1098_1109dup | XP_011514054.1:p.Ile370_Ser371insPheThrTh... | |
| XM_011515753.1:c.765_776dup | XP_011514055.1:p.Ile259_Ser260insPheThrTh... | |
| XM_011515754.1:c.765_776dup | XP_011514056.1:p.Ile259_Ser260insPheThrTh... | |
| NM_000492.4:c.1008_1019dup MANE Select | NP_000483.3:p.Ile340_Ser341insPheThrThrIl... |