Linked Data
ClinVar Variation Id:
2194621
ClinVar RCV Id:
RCV002637238
dbSNP Id:
rs781262017
gnomAD v2:
4-6303036-G-GCCTGCTCTATGTCTA
gnomAD v4:
4-6301309-G-GCCTGCTCTATGTCTA
MyVariant Identifiers:
chr4:g.6303051_6303052insCCTGCTCTATGTCTA (hg19)
chr4:g.6301324_6301325insCCTGCTCTATGTCTA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6301320_6301334dup , CM000666.2:g.6301320_6301334dup | GRCh38 |
| NC_000004.11:g.6303047_6303061dup , CM000666.1:g.6303047_6303061dup | GRCh37 |
| NC_000004.10:g.6353948_6353962dup | NCBI36 |
| NG_011700.1:g.36471_36485dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.1561_1575dup | ENSP00000507852.1:p.Tyr525_Leu526insValTyrLeuLeuTyr | |
| ENST00000683395.1:c.1502_1516dup | ||
| ENST00000684087.1:c.1525_1539dup | ENSP00000506978.1:p.Tyr513_Leu514insValTyrLeuLeuTyr | |
| ENST00000506362.2:c.1276_1290dup | ENSP00000424103.2:p.Tyr430_Leu431insValTyrLeuLeuTyr | |
| ENST00000673642.1:c.1184_1198dup | ENSP00000501242.1:p.Leu399_Ser400insCysLeuProAlaLeu | |
| ENST00000673991.1:c.1561_1575dup | ENSP00000501033.1:p.Tyr525_Leu526insValTyrLeuLeuTyr | |
| ENST00000226760.5:c.1525_1539dup MANE Select | ENSP00000226760.1:p.Tyr513_Leu514insValTyrLeuLeuTyr | |
| ENST00000503569.5:c.1525_1539dup | ENSP00000423337.1:p.Tyr513_Leu514insValTyrLeuLeuTyr | |
| ENST00000507765.1:n.1710_1724dup | ||
| NM_001145853.1:c.1525_1539dup | NP_001139325.1:p.Tyr513_Leu514insValTyrLeuLeuTyr | |
| NM_006005.3:c.1525_1539dup MANE Select | NP_005996.2:p.Tyr513_Leu514insValTyrLeuLeuTyr | |
| XM_017008586.1:c.1534_1548dup | XP_016864075.1:p.Tyr516_Leu517insValTyrLeuLeuTyr |