Linked Data
ClinVar Variation Id:
488626
ClinVar RCV Id:
RCV000578444
dbSNP Id:
rs1554901580
MyVariant Identifiers:
chr11:g.6636482_6636483insGGCACGGCCACT (hg19)
chr11:g.6615251_6615252insGGCACGGCCACT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6615256_6615267dup , CM000673.2:g.6615256_6615267dup | GRCh38 |
| NC_000011.9:g.6636487_6636498dup , CM000673.1:g.6636487_6636498dup | GRCh37 |
| NC_000011.8:g.6593063_6593074dup | NCBI36 |
| NG_008653.1:g.9199_9210dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.1219_1230dup | ENSP00000507321.1:p.Ala410_Tyr411insSerGlyArgAla | |
| ENST00000299427.12:c.1333_1344dup MANE Select | ENSP00000299427.6:p.Ala448_Tyr449insSerGlyArgAla | |
| ENST00000524611.2:n.193_204dup | ||
| ENST00000524924.2:n.453_464dup | ||
| ENST00000533371.6:c.604_615dup | ENSP00000437066.1:p.Ala205_Tyr206insSerGlyArgAla | |
| ENST00000642892.1:c.604_615dup | ENSP00000494165.1:p.Ala205_Tyr206insSerGlyArgAla | |
| ENST00000643342.1:c.406_417dup | ||
| ENST00000643439.1:c.*1073_*1084dup | ENSP00000495849.1:n.*1073_*1084dup | |
| ENST00000643479.1:n.1519_1530dup | ||
| ENST00000643516.1:c.842_853dup | ||
| ENST00000644218.1:c.1144_1155dup | ENSP00000493574.1:p.Ala385_Tyr386insSerGlyArgAla | |
| ENST00000644683.1:c.*786_*797dup | ENSP00000494085.1:n.*786_*797dup | |
| ENST00000644810.1:c.1054_1065dup | ENSP00000495895.1:p.Ala355_Tyr356insSerGlyArgAla | |
| ENST00000644831.1:n.1509_1520dup | ||
| ENST00000644933.1:c.*199_*210dup | ENSP00000496133.1:n.*199_*210dup | |
| ENST00000645285.1:c.*199_*210dup | ENSP00000495058.1:n.*199_*210dup | |
| ENST00000645331.1:n.2538_2549dup | ||
| ENST00000645620.1:c.604_615dup | ENSP00000493657.1:p.Ala205_Tyr206insSerGlyArgAla | |
| ENST00000646691.1:n.1220_1231dup | ||
| ENST00000646777.1:n.1666_1677dup | ||
| ENST00000647016.1:n.1813_1824dup | ||
| ENST00000647152.1:c.604_615dup | ENSP00000495893.1:p.Ala205_Tyr206insSerGlyArgAla | |
| ENST00000647209.1:c.*1202_*1213dup | ENSP00000495558.1:n.*1202_*1213dup | |
| ENST00000647346.1:n.2353_2364dup | ||
| ENST00000299427.10:c.1333_1344dup | ENSP00000299427.6:p.Ala448_Tyr449insSerGlyArgAla | |
| ENST00000524611.1:n.211_222dup | ||
| ENST00000532191.1:n.386_397dup | ||
| ENST00000533371.5:c.604_615dup | ENSP00000437066.1:p.Ala205_Tyr206insSerGlyArgAla | |
| ENST00000611494.4:c.1333_1344dup | ENSP00000484546.1:p.Ala448_Tyr449insSerGlyArgAla | |
| NM_000391.3:c.1333_1344dup | NP_000382.3:p.Ala448_Tyr449insSerGlyArgAla | |
| NM_000391.4:c.1333_1344dup MANE Select | NP_000382.3:p.Ala448_Tyr449insSerGlyArgAla |