Linked Data
ClinVar Variation Id:
233094
dbSNP Id:
rs876660190
gnomAD v2:
1-45798772-C-CATCCAT
gnomAD v4:
1-45333100-C-CATCCAT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45333101_45333106dup , CM000663.2:g.45333101_45333106dup | GRCh38 |
| NC_000001.10:g.45798773_45798778dup , CM000663.1:g.45798773_45798778dup | GRCh37 |
| NC_000001.9:g.45571360_45571365dup | NCBI36 |
| NG_008189.1:g.12365_12370dup , LRG_220:g.12365_12370dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412971.6:c.37-272_37-267dup | ENSP00000410263.2:n.37-272_37-267dup | |
| ENST00000435155.2:c.402_407dup | ENSP00000403655.2:p.Trp135_Met136insIleTrp | |
| ENST00000467459.6:c.369_374dup | ENSP00000435889.2:p.Trp124_Met125insIleTrp | |
| ENST00000483127.2:c.387_392dup | ENSP00000436469.2:p.Trp130_Met131insIleTrp | |
| ENST00000485271.6:c.369_374dup | ENSP00000431264.2:p.Trp124_Met125insIleTrp | |
| ENST00000529892.6:c.411_416dup | ENSP00000432528.2:p.Trp138_Met139insIleTrp | |
| ENST00000533178.6:c.116-419_116-414dup | ENSP00000436430.2:n.116-419_116-414dup | |
| ENST00000672314.2:c.369_374dup | ENSP00000500828.2:p.Trp124_Met125insIleTrp | |
| ENST00000674679.2:c.*281_*286dup | ENSP00000501623.2:n.*281_*286dup | |
| ENST00000710952.2:c.453_458dup MANE Plus Clinical | ENSP00000518552.2:p.Trp152_Met153insIleTrp | |
| ENST00000672818.3:c.444_449dup | ENSP00000500891.1:p.Trp149_Met150insIleTrp | |
| ENST00000450313.6:c.389-147_389-142dup | ENSP00000408176.2:n.389-147_389-142dup | |
| ENST00000456914.7:c.369_374dup MANE Select | ENSP00000407590.2:p.Trp124_Met125insIleTrp | |
| ENST00000461495.6:c.*118-147_*118-142dup | ENSP00000437166.1:n.*118-147_*118-142dup | |
| ENST00000671856.1:n.325-147_325-142dup | ||
| ENST00000671898.1:c.957_962dup | ENSP00000499896.1:p.Trp320_Met321insIleTrp | |
| ENST00000672011.1:c.347-147_347-142dup | ENSP00000500418.1:n.347-147_347-142dup | |
| ENST00000672314.1:c.369_374dup | ENSP00000500828.1:p.Trp124_Met125insIleTrp | |
| ENST00000672593.1:c.*182_*187dup | ENSP00000500455.1:n.*182_*187dup | |
| ENST00000672764.1:c.338-147_338-142dup | ENSP00000500886.1:n.338-147_338-142dup | |
| ENST00000672818.2:c.444_449dup | ENSP00000500891.1:p.Trp149_Met150insIleTrp | |
| ENST00000673134.1:c.*117+179_*117+184dup | ENSP00000500526.1:n.*117+179_*117+184dup | |
| ENST00000674679.1:c.397_402dup | ENSP00000501623.1:n.397_402dup | |
| ENST00000354383.10:c.372_377dup | ENSP00000346354.6:p.Trp125_Met126insIleTrp | |
| ENST00000355498.6:c.369_374dup | ENSP00000347685.2:p.Trp124_Met125insIleTrp | |
| ENST00000372098.7:c.444_449dup | ENSP00000361170.3:p.Trp149_Met150insIleTrp | |
| ENST00000372104.5:c.369_374dup | ENSP00000361176.1:p.Trp124_Met125insIleTrp | |
| ENST00000372110.7:c.414_419dup | ENSP00000361182.3:p.Trp139_Met140insIleTrp | |
| ENST00000372115.7:c.411_416dup | ENSP00000361187.3:p.Trp138_Met139insIleTrp | |
| ENST00000412971.5:c.37-272_37-267dup | ENSP00000410263.1:n.37-272_37-267dup | |
| ENST00000435155.1:c.402_407dup | ENSP00000403655.1:p.Trp135_Met136insIleTrp | |
| ENST00000448481.5:c.402_407dup | ENSP00000409718.1:p.Trp135_Met136insIleTrp | |
| ENST00000450313.5:c.453_458dup | ENSP00000408176.1:p.Trp152_Met153insIleTrp | |
| ENST00000456914.6:c.369_374dup | ENSP00000407590.2:p.Trp124_Met125insIleTrp | |
| ENST00000461495.5:c.*118-147_*118-142dup | ENSP00000437166.1:n.*118-147_*118-142dup | |
| ENST00000462387.5:n.554_559dup | ||
| ENST00000467940.5:c.*292_*297dup | ENSP00000436478.1:n.*292_*297dup | |
| ENST00000470256.5:c.307+179_307+184dup | ENSP00000434985.1:n.307+179_307+184dup | |
| ENST00000474703.1:n.524_529dup | ||
| ENST00000475516.5:c.*182_*187dup | ENSP00000433843.1:n.*182_*187dup | |
| ENST00000476789.5:n.589_594dup | ||
| ENST00000478796.5:n.219_224dup | ||
| ENST00000479746.6:n.432_437dup | ||
| ENST00000481139.5:n.622_627dup | ||
| ENST00000481571.5:c.*182_*187dup | ENSP00000436597.1:n.*182_*187dup | |
| ENST00000483642.5:n.664_669dup | ||
| ENST00000485484.5:n.533_538dup | ||
| ENST00000488731.6:c.116-272_116-267dup | ENSP00000432330.1:n.116-272_116-267dup | |
| ENST00000492494.5:n.546_551dup | ||
| ENST00000525160.5:c.*30-147_*30-142dup | ENSP00000431568.1:n.*30-147_*30-142dup | |
| ENST00000528013.6:c.411_416dup | ENSP00000433130.2:p.Trp138_Met139insIleTrp | |
| ENST00000529984.5:c.116-272_116-267dup | ENSP00000437093.1:n.116-272_116-267dup | |
| ENST00000531105.5:c.115+1285_115+1290dup | ENSP00000431292.1:n.115+1285_115+1290dup | |
| ENST00000533178.5:c.122-419_122-414dup | ENSP00000436430.1:n.122-419_122-414dup | |
| NM_001048171.1:c.411_416dup | NP_001041636.1:p.Trp138_Met139insIleTrp | |
| NM_001048172.1:c.372_377dup | NP_001041637.1:p.Trp125_Met126insIleTrp | |
| NM_001048173.1:c.369_374dup | NP_001041638.1:p.Trp124_Met125insIleTrp | |
| NM_001048174.1:c.369_374dup | NP_001041639.1:p.Trp124_Met125insIleTrp | |
| NM_001128425.1:c.453_458dup , LRG_220t1:c.453_458dup | NP_001121897.1:p.Trp152_Met153insIleTrp | |
| NM_001293190.1:c.414_419dup | NP_001280119.1:p.Trp139_Met140insIleTrp | |
| NM_001293191.1:c.402_407dup | NP_001280120.1:p.Trp135_Met136insIleTrp | |
| NM_001293192.1:c.93_98dup | NP_001280121.1:p.Trp32_Met33insIleTrp | |
| NM_001293195.1:c.369_374dup | NP_001280124.1:p.Trp124_Met125insIleTrp | |
| NM_001293196.1:c.93_98dup | NP_001280125.1:p.Trp32_Met33insIleTrp | |
| NM_012222.2:c.444_449dup | NP_036354.1:p.Trp149_Met150insIleTrp | |
| XM_011541497.1:c.429_434dup | XP_011539799.1:p.Trp144_Met145insIleTrp | |
| XM_011541498.1:c.411_416dup | XP_011539800.1:p.Trp138_Met139insIleTrp | |
| XM_011541499.1:c.411_416dup | XP_011539801.1:p.Trp138_Met139insIleTrp | |
| XM_011541500.1:c.411_416dup | XP_011539802.1:p.Trp138_Met139insIleTrp | |
| XM_011541501.1:c.411_416dup | XP_011539803.1:p.Trp138_Met139insIleTrp | |
| XM_011541502.1:c.411_416dup | XP_011539804.1:p.Trp138_Met139insIleTrp | |
| XM_011541503.1:c.453_458dup | XP_011539805.1:p.Trp152_Met153insIleTrp | |
| XM_011541504.1:c.402_407dup | XP_011539806.1:p.Trp135_Met136insIleTrp | |
| XM_011541505.1:c.43-272_43-267dup | XP_011539807.1:n.43-272_43-267dup | |
| XM_011541506.1:c.43-272_43-267dup | XP_011539808.1:n.43-272_43-267dup | |
| XM_011541507.1:c.33+179_33+184dup | XP_011539809.1:n.33+179_33+184dup | |
| XM_011541508.1:c.7-147_7-142dup | XP_011539810.1:n.7-147_7-142dup | |
| XR_946658.1:n.500_505dup | ||
| NM_001350650.1:c.34-147_34-142dup | NP_001337579.1:n.34-147_34-142dup | |
| NM_001350651.1:c.34-147_34-142dup | NP_001337580.1:n.34-147_34-142dup | |
| NR_146882.1:n.627_632dup | ||
| NR_146883.1:n.451-147_451-142dup | ||
| XM_011541497.3:c.429_434dup | XP_011539799.1:p.Trp144_Met145insIleTrp | |
| XM_011541500.3:c.411_416dup | XP_011539802.1:p.Trp138_Met139insIleTrp | |
| XM_011541501.2:c.411_416dup | XP_011539803.1:p.Trp138_Met139insIleTrp | |
| XM_011541502.2:c.411_416dup | XP_011539804.1:p.Trp138_Met139insIleTrp | |
| XM_011541503.2:c.453_458dup | XP_011539805.1:p.Trp152_Met153insIleTrp | |
| XM_011541504.2:c.402_407dup | XP_011539806.1:p.Trp135_Met136insIleTrp | |
| XM_011541505.2:c.43-272_43-267dup | XP_011539807.1:n.43-272_43-267dup | |
| XM_011541506.2:c.43-272_43-267dup | XP_011539808.1:n.43-272_43-267dup | |
| XM_017001331.1:c.411_416dup | XP_016856820.1:p.Trp138_Met139insIleTrp | |
| XM_017001332.1:c.411_416dup | XP_016856821.1:p.Trp138_Met139insIleTrp | |
| XM_017001333.1:c.411_416dup | XP_016856822.1:p.Trp138_Met139insIleTrp | |
| XM_017001334.1:c.372_377dup | XP_016856823.1:p.Trp125_Met126insIleTrp | |
| XM_017001335.1:c.93_98dup | XP_016856824.1:p.Trp32_Met33insIleTrp | |
| XM_017001336.1:c.34-147_34-142dup | XP_016856825.1:n.34-147_34-142dup | |
| XM_017001337.1:c.34-147_34-142dup | XP_016856826.1:n.34-147_34-142dup | |
| XM_024447244.1:c.34-147_34-142dup | XP_024303012.1:n.34-147_34-142dup | |
| XM_024447245.1:c.34-147_34-142dup | XP_024303013.1:n.34-147_34-142dup | |
| XM_024447248.1:c.33+179_33+184dup | XP_024303016.1:n.33+179_33+184dup | |
| XM_024447249.1:c.-285_-280dup | XP_024303017.1:n.-285_-280dup | |
| XM_024447250.1:c.-285_-280dup | XP_024303018.1:n.-285_-280dup | |
| XM_024447251.1:c.-221-147_-221-142dup | XP_024303019.1:n.-221-147_-221-142dup | |
| XR_001737190.1:n.414_419dup | ||
| XR_001737192.1:n.277+179_277+184dup | ||
| XR_002956643.1:n.457+179_457+184dup | ||
| XR_002956644.1:n.721_726dup | ||
| XR_946658.2:n.514_519dup | ||
| NM_001048171.2:c.369_374dup | NP_001041636.2:p.Trp124_Met125insIleTrp | |
| NM_001128425.2:c.453_458dup MANE Plus Clinical | NP_001121897.1:p.Trp152_Met153insIleTrp | |
| NM_001048172.2:c.372_377dup | NP_001041637.1:p.Trp125_Met126insIleTrp | |
| NM_001048173.2:c.369_374dup | NP_001041638.1:p.Trp124_Met125insIleTrp | |
| NM_001048174.2:c.369_374dup MANE Select | NP_001041639.1:p.Trp124_Met125insIleTrp | |
| NM_001293190.2:c.414_419dup | NP_001280119.1:p.Trp139_Met140insIleTrp | |
| NM_001293191.2:c.402_407dup | NP_001280120.1:p.Trp135_Met136insIleTrp | |
| NM_001293192.2:c.93_98dup | NP_001280121.1:p.Trp32_Met33insIleTrp | |
| NM_001293195.2:c.369_374dup | NP_001280124.1:p.Trp124_Met125insIleTrp | |
| NM_001293196.2:c.93_98dup | NP_001280125.1:p.Trp32_Met33insIleTrp | |
| NM_001350650.2:c.34-147_34-142dup | NP_001337579.1:n.34-147_34-142dup | |
| NM_001350651.2:c.34-147_34-142dup | NP_001337580.1:n.34-147_34-142dup | |
| NM_012222.3:c.444_449dup | NP_036354.1:p.Trp149_Met150insIleTrp | |
| NR_146882.2:n.597_602dup | ||
| NR_146883.2:n.456-147_456-142dup |