Linked Data
ClinVar Variation Id:
188894
dbSNP Id:
rs786204542
MyVariant Identifiers:
chr11:g.17428471_17428473delinsCAGTTCCTGGCTG (hg19)
chr11:g.17406924_17406926delinsCAGTTCCTGGCTG (hg38)
PubMed:
PMID:17668386
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17406924_17406926delinsCAGTTCCTGGCTG , CM000673.2:g.17406924_17406926delinsCAGTTCCTGGCTG | GRCh38 |
| NC_000011.9:g.17428471_17428473delinsCAGTTCCTGGCTG , CM000673.1:g.17428471_17428473delinsCAGTTCCTGGCTG | GRCh37 |
| NC_000011.8:g.17385047_17385049delinsCAGTTCCTGGCTG | NCBI36 |
| NG_008867.1:g.74977_74979delinsCAGCCAGGAACTG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.2693_2695delinsCAGCCAGGAACTG | ||
| ENST00000529967.6:n.1463_1465delinsCAGCCAGGAACTG | ||
| ENST00000532220.2:n.856_858delinsCAGCCAGGAACTG | ||
| ENST00000642611.2:n.3193_3195delinsCAGCCAGGAACTG | ||
| ENST00000645004.2:n.623_625delinsCAGCCAGGAACTG | ||
| ENST00000682051.1:n.3140_3142delinsCAGCCAGGAACTG | ||
| ENST00000682110.1:n.3193_3195delinsCAGCCAGGAACTG | ||
| ENST00000682140.1:c.3121_3123delinsCAGCCAGGAACTG | ENSP00000507829.1:p.Thr1041GlnfsTer? | |
| ENST00000682185.1:n.4429_4431delinsCAGCCAGGAACTG | ||
| ENST00000682204.1:c.*1262_*1264delinsCAGCCAGGAACTG | ENSP00000507094.1:n.*1262_*1264delinsCAGC... | |
| ENST00000682215.1:n.3190_3192delinsCAGCCAGGAACTG | ||
| ENST00000682288.1:c.*1555_*1557delinsCAGCCAGGAACTG | ENSP00000507506.1:n.*1555_*1557delinsCAGC... | |
| ENST00000682442.1:n.3314_3316delinsCAGCCAGGAACTG | ||
| ENST00000682528.1:n.3270_3272delinsCAGCCAGGAACTG | ||
| ENST00000682673.1:n.3137_3139delinsCAGCCAGGAACTG | ||
| ENST00000682805.1:n.3190_3192delinsCAGCCAGGAACTG | ||
| ENST00000682965.1:c.3121_3123delinsCAGCCAGGAACTG | ENSP00000508229.1:p.Thr1041GlnfsTer? | |
| ENST00000683093.1:n.3292_3294delinsCAGCCAGGAACTG | ||
| ENST00000683136.1:c.3121_3123delinsCAGCCAGGAACTG | ENSP00000507768.1:p.Thr1041GlnfsTer? | |
| ENST00000683153.1:n.3349_3351delinsCAGCCAGGAACTG | ||
| ENST00000683365.1:n.3295_3297delinsCAGCCAGGAACTG | ||
| ENST00000683377.1:n.3193_3195delinsCAGCCAGGAACTG | ||
| ENST00000683456.1:c.*261_*263delinsCAGCCAGGAACTG | ENSP00000508318.1:n.*261_*263delinsCAGCCA... | |
| ENST00000683522.1:n.3193_3195delinsCAGCCAGGAACTG | ||
| ENST00000683562.1:c.*1293_*1295delinsCAGCCAGGAACTG | ENSP00000508265.1:n.*1293_*1295delinsCAGC... | |
| ENST00000683693.1:n.3270_3272delinsCAGCCAGGAACTG | ||
| ENST00000683725.1:c.3124_3126delinsCAGCCAGGAACTG | ENSP00000507496.1:p.Thr1042GlnfsTer? | |
| ENST00000684010.1:n.3188_3190delinsCAGCCAGGAACTG | ||
| ENST00000684157.1:n.3193_3195delinsCAGCCAGGAACTG | ||
| ENST00000684253.1:n.3096_3098delinsCAGCCAGGAACTG | ||
| ENST00000684288.1:c.*1296_*1298delinsCAGCCAGGAACTG | ENSP00000507143.1:n.*1296_*1298delinsCAGC... | |
| ENST00000684313.1:n.2625_2627delinsCAGCCAGGAACTG | ||
| ENST00000684332.1:n.3266_3268delinsCAGCCAGGAACTG | ||
| ENST00000684371.1:n.3299_3301delinsCAGCCAGGAACTG | ||
| ENST00000684404.1:n.3236_3238delinsCAGCCAGGAACTG | ||
| ENST00000684442.1:n.3193_3195delinsCAGCCAGGAACTG | ||
| ENST00000684555.1:c.*1336_*1338delinsCAGCCAGGAACTG | ENSP00000507705.1:n.*1336_*1338delinsCAGC... | |
| ENST00000684571.1:c.2965_2967delinsCAGCCAGGAACTG | ENSP00000506935.1:p.Thr989GlnfsTer? | |
| ENST00000684593.1:c.*2829_*2831delinsCAGCCAGGAACTG | ENSP00000507005.1:n.*2829_*2831delinsCAGC... | |
| ENST00000684711.1:c.*1520_*1522delinsCAGCCAGGAACTG | ENSP00000506841.1:n.*1520_*1522delinsCAGC... | |
| ENST00000302539.9:c.3127_3129delinsCAGCCAGGAACTG | ENSP00000303960.4:p.Thr1043GlnfsTer? | |
| ENST00000389817.8:c.3124_3126delinsCAGCCAGGAACTG MANE Select | ENSP00000374467.4:p.Thr1042GlnfsTer? | |
| ENST00000642271.1:c.3121_3123delinsCAGCCAGGAACTG | ENSP00000493749.1:p.Thr1041GlnfsTer? | |
| ENST00000642579.1:c.1208_1210delinsCAGCCAGGAACTG | ||
| ENST00000642611.1:n.3078_3080delinsCAGCCAGGAACTG | ||
| ENST00000642902.1:c.2906_2908delinsCAGCCAGGAACTG | ||
| ENST00000643260.1:c.3124_3126delinsCAGCCAGGAACTG | ENSP00000494450.1:p.Thr1042GlnfsTer? | |
| ENST00000643562.1:c.*1100_*1102delinsCAGCCAGGAACTG | ENSP00000496124.1:n.*1100_*1102delinsCAGC... | |
| ENST00000643925.1:c.1248_1250delinsCAGCCAGGAACTG | ||
| ENST00000644447.1:c.1480_1482delinsCAGCCAGGAACTG | ENSP00000496282.1:p.Thr494GlnfsTer? | |
| ENST00000644484.1:c.*1379_*1381delinsCAGCCAGGAACTG | ENSP00000493558.1:n.*1379_*1381delinsCAGC... | |
| ENST00000644542.1:c.*2829_*2831delinsCAGCCAGGAACTG | ENSP00000495532.1:n.*2829_*2831delinsCAGC... | |
| ENST00000644675.1:c.*1296_*1298delinsCAGCCAGGAACTG | ENSP00000494567.1:n.*1296_*1298delinsCAGC... | |
| ENST00000644757.1:c.*1409_*1411delinsCAGCCAGGAACTG | ENSP00000495085.1:n.*1409_*1411delinsCAGC... | |
| ENST00000644772.1:c.3190_3192delinsCAGCCAGGAACTG | ENSP00000494321.1:p.Thr1064GlnfsTer? | |
| ENST00000645004.1:n.263_265delinsCAGCCAGGAACTG | ||
| ENST00000645076.1:c.2323_2325delinsCAGCCAGGAACTG | ||
| ENST00000645417.1:c.290_292delinsCAGCCAGGAACTG | ||
| ENST00000645744.1:c.*1388_*1390delinsCAGCCAGGAACTG | ENSP00000494564.1:n.*1388_*1390delinsCAGC... | |
| ENST00000645760.1:c.3399_3401delinsCAGCCAGGAACTG | ||
| ENST00000645884.1:c.*261_*263delinsCAGCCAGGAACTG | ENSP00000495516.1:n.*261_*263delinsCAGCCA... | |
| ENST00000646003.1:c.*1080_*1082delinsCAGCCAGGAACTG | ENSP00000495259.1:n.*1080_*1082delinsCAGC... | |
| ENST00000646207.1:c.*1591_*1593delinsCAGCCAGGAACTG | ENSP00000495025.1:n.*1591_*1593delinsCAGC... | |
| ENST00000646276.1:c.*1397_*1399delinsCAGCCAGGAACTG | ENSP00000496070.1:n.*1397_*1399delinsCAGC... | |
| ENST00000646592.1:c.2430_2432delinsCAGCCAGGAACTG | ||
| ENST00000646902.1:c.3121_3123delinsCAGCCAGGAACTG | ENSP00000494101.1:p.Thr1041GlnfsTer? | |
| ENST00000646993.1:c.*1520_*1522delinsCAGCCAGGAACTG | ENSP00000493720.1:n.*1520_*1522delinsCAGC... | |
| ENST00000647013.1:c.3130_3132delinsCAGCCAGGAACTG | ENSP00000496741.1:n.3130_3132delinsCAGCCA... | |
| ENST00000647015.1:c.2875_2877delinsCAGCCAGGAACTG | ENSP00000495389.1:p.Thr959GlnfsTer? | |
| ENST00000647086.1:c.*2854_*2856delinsCAGCCAGGAACTG | ENSP00000493677.1:n.*2854_*2856delinsCAGC... | |
| ENST00000647158.1:c.*1265_*1267delinsCAGCCAGGAACTG | ENSP00000495744.1:n.*1265_*1267delinsCAGC... | |
| ENST00000302539.8:c.3127_3129delinsCAGCCAGGAACTG | ENSP00000303960.4:p.Thr1043GlnfsTer? | |
| ENST00000389817.7:c.3124_3126delinsCAGCCAGGAACTG | ENSP00000374467.3:p.Thr1042GlnfsTer? | |
| ENST00000524561.1:n.256_258delinsCAGCCAGGAACTG | ||
| ENST00000526921.5:n.808_810delinsCAGCCAGGAACTG | ||
| ENST00000527905.5:c.2994_*2delinsCAGCCAGGAACTG | ENSP00000431653.1:n.[c.2994_*2delinsCAGCC... | |
| ENST00000529967.5:n.793_795delinsCAGCCAGGAACTG | ||
| NM_000352.4:c.3124_3126delinsCAGCCAGGAACTG | NP_000343.2:p.Thr1042GlnfsTer? | |
| NM_001287174.1:c.3127_3129delinsCAGCCAGGAACTG | NP_001274103.1:p.Thr1043GlnfsTer? | |
| XM_011520331.1:c.3124_3126delinsCAGCCAGGAACTG | XP_011518633.1:p.Thr1042GlnfsTer? | |
| XM_011520332.1:c.3127_3129delinsCAGCCAGGAACTG | XP_011518634.1:p.Thr1043GlnfsTer? | |
| XM_011520333.1:c.1624_1626delinsCAGCCAGGAACTG | XP_011518635.1:p.Thr542GlnfsTer? | |
| XR_930890.1:n.3190_3192delinsCAGCCAGGAACTG | ||
| XR_930891.1:n.3190_3192delinsCAGCCAGGAACTG | ||
| XR_930892.1:n.3090_3092delinsCAGCCAGGAACTG | ||
| XR_930893.1:n.3087_3089delinsCAGCCAGGAACTG | ||
| NM_001351295.1:c.3190_3192delinsCAGCCAGGAACTG | NP_001338224.1:p.Thr1064GlnfsTer? | |
| NM_001351296.1:c.3124_3126delinsCAGCCAGGAACTG | NP_001338225.1:p.Thr1042GlnfsTer? | |
| NM_001351297.1:c.3121_3123delinsCAGCCAGGAACTG | NP_001338226.1:p.Thr1041GlnfsTer? | |
| NR_147094.1:n.3273_3275delinsCAGCCAGGAACTG | ||
| XM_017018197.2:c.3193_3195delinsCAGCCAGGAACTG | XP_016873686.1:p.Thr1065GlnfsTer? | |
| XM_017018199.1:c.3190_3192delinsCAGCCAGGAACTG | XP_016873688.1:p.Thr1064GlnfsTer? | |
| XM_017018201.2:c.3193_3195delinsCAGCCAGGAACTG | XP_016873690.1:p.Thr1065GlnfsTer? | |
| XM_017018202.1:c.1690_1692delinsCAGCCAGGAACTG | XP_016873691.1:p.Thr564GlnfsTer? | |
| XM_017018204.1:c.1081_1083delinsCAGCCAGGAACTG | XP_016873693.1:p.Thr361GlnfsTer? | |
| XM_024448668.1:c.1492_1494delinsCAGCCAGGAACTG | XP_024304436.1:p.Thr498GlnfsTer? | |
| XR_001747945.2:n.3265_3267delinsCAGCCAGGAACTG | ||
| XR_001747946.2:n.3196_3198delinsCAGCCAGGAACTG | ||
| XR_002957189.1:n.3345_3347delinsCAGCCAGGAACTG | ||
| NM_000352.6:c.3124_3126delinsCAGCCAGGAACTG MANE Select | NP_000343.2:p.Thr1042GlnfsTer? | |
| NM_001287174.2:c.3127_3129delinsCAGCCAGGAACTG | NP_001274103.1:p.Thr1043GlnfsTer? | |
| NM_001351295.2:c.3190_3192delinsCAGCCAGGAACTG | NP_001338224.1:p.Thr1064GlnfsTer? | |
| NM_001351296.2:c.3124_3126delinsCAGCCAGGAACTG | NP_001338225.1:p.Thr1042GlnfsTer? | |
| NM_001351297.2:c.3121_3123delinsCAGCCAGGAACTG | NP_001338226.1:p.Thr1041GlnfsTer? | |
| NR_147094.2:n.3273_3275delinsCAGCCAGGAACTG | ||
| NM_001287174.3:c.3127_3129delinsCAGCCAGGAACTG | NP_001274103.1:p.Thr1043GlnfsTer? |