Linked Data
ClinVar Variation Id:
89813
dbSNP Id:
rs587778934
MyVariant Identifiers:
chr3:g.37081757_37081761dupTTATA (hg19)
chr3:g.37040266_37040270dupTTATA (hg38)
PubMed:
PMID:28874130
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.37040266_37040270dup , CM000665.2:g.37040266_37040270dup | GRCh38 |
| NC_000003.11:g.37081757_37081761dup , CM000665.1:g.37081757_37081761dup | GRCh37 |
| NC_000003.10:g.37056761_37056765dup | NCBI36 |
| NG_007109.2:g.51917_51921dup , LRG_216:g.51917_51921dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000413740.2:c.1639_1643dup | ENSP00000416476.2:p.Leu549TyrfsTer11 | |
| ENST00000429117.6:c.1345_1349dup | ENSP00000407019.2:p.Leu451TyrfsTer? | |
| ENST00000450420.6:c.1559-10220_1559-10216dup | ENSP00000393006.2:n.1559-10220_1559-10216... | |
| ENST00000456676.7:c.1639_1643dup | ENSP00000416687.3:p.Leu549TyrfsTer? | |
| ENST00000492474.6:c.916_920dup | ENSP00000518393.1:p.Leu308TyrfsTer? | |
| ENST00000616768.6:c.1639_1643dup | ENSP00000480669.3:p.Leu549TyrfsTer? | |
| ENST00000673673.2:c.1639_1643dup | ENSP00000500979.2:p.Leu549TyrfsTer? | |
| ENST00000231790.8:c.1639_1643dup MANE Select | ENSP00000231790.3:p.Leu549TyrfsTer? | |
| ENST00000413212.2:c.*557_*561dup | ENSP00000400844.2:n.*557_*561dup | |
| ENST00000432299.6:c.*1471_*1475dup | ENSP00000416783.1:n.*1471_*1475dup | |
| ENST00000441265.6:c.916_920dup | ENSP00000398392.2:p.Leu308TyrfsTer16 | |
| ENST00000447829.6:c.*750_*754dup | ENSP00000399329.2:n.*750_*754dup | |
| ENST00000539477.6:c.916_920dup | ENSP00000443665.1:p.Leu308TyrfsTer? | |
| ENST00000616768.5:c.676_680dup | ENSP00000480669.2:p.Leu228TyrfsTer? | |
| ENST00000673673.1:c.1592_1596dup | ||
| ENST00000673715.1:c.1639_1643dup | ENSP00000501301.1:p.Leu549TyrfsTer? | |
| ENST00000673889.1:n.1021_1025dup | ||
| ENST00000673897.1:c.*1431_*1435dup | ENSP00000501109.1:n.*1431_*1435dup | |
| ENST00000673899.1:c.907_911dup | ENSP00000501030.1:p.Leu305TyrfsTer? | |
| ENST00000673947.1:c.*1779_*1783dup | ENSP00000501304.1:n.*1779_*1783dup | |
| ENST00000673972.1:c.*1517_*1521dup | ENSP00000501281.1:n.*1517_*1521dup | |
| ENST00000673990.1:n.1530_1534dup | ||
| ENST00000674019.1:c.916_920dup | ENSP00000501081.1:p.Leu308TyrfsTer? | |
| ENST00000674111.1:c.1639_1643dup | ENSP00000501162.1:p.Leu549TyrfsTer16 | |
| ENST00000674125.1:n.350_354dup | ||
| ENST00000231790.6:c.1639_1643dup | ENSP00000231790.2:p.Leu549TyrfsTer? | |
| ENST00000413740.1:c.262_266dup | ENSP00000416476.1:p.Leu90TyrfsTer11 | |
| ENST00000435176.5:c.1345_1349dup | ENSP00000402564.1:p.Leu451TyrfsTer? | |
| ENST00000450420.5:c.182-10220_182-10216dup | ENSP00000393006.1:n.182-10220_182-10216du... | |
| ENST00000455445.6:c.916_920dup | ENSP00000398272.2:p.Leu308TyrfsTer? | |
| ENST00000456676.6:c.1614_1618dup | ||
| ENST00000458205.6:c.916_920dup | ENSP00000402667.2:p.Leu308TyrfsTer? | |
| ENST00000536378.5:c.916_920dup | ENSP00000444286.2:p.Leu308TyrfsTer? | |
| ENST00000539477.5:c.916_920dup | ENSP00000443665.1:p.Leu308TyrfsTer? | |
| ENST00000616768.4:c.407_411dup | ||
| NM_000249.3:c.1639_1643dup , LRG_216t1:c.1639_1643dup | NP_000240.1:p.Leu549TyrfsTer? | |
| NM_001167617.1:c.1345_1349dup | NP_001161089.1:p.Leu451TyrfsTer? | |
| NM_001167618.1:c.916_920dup | NP_001161090.1:p.Leu308TyrfsTer? | |
| NM_001167619.1:c.916_920dup | NP_001161091.1:p.Leu308TyrfsTer? | |
| NM_001258271.1:c.1639_1643dup | NP_001245200.1:p.Leu549TyrfsTer? | |
| NM_001258273.1:c.916_920dup | NP_001245202.1:p.Leu308TyrfsTer? | |
| NM_001258274.1:c.916_920dup | NP_001245203.1:p.Leu308TyrfsTer? | |
| XM_005265161.1:c.1432_1436dup | XP_005265218.1:p.Leu480TyrfsTer? | |
| XM_005265163.1:c.916_920dup | XP_005265220.1:p.Leu308TyrfsTer? | |
| XM_005265164.1:c.916_920dup | XP_005265221.1:p.Leu308TyrfsTer? | |
| XM_005265166.1:c.616_620dup | XP_005265223.1:p.Leu208TyrfsTer? | |
| XM_011533727.1:c.565_569dup | XP_011532029.1:p.Leu191TyrfsTer? | |
| NM_001167617.2:c.1345_1349dup | NP_001161089.1:p.Leu451TyrfsTer? | |
| NM_001167618.2:c.916_920dup | NP_001161090.1:p.Leu308TyrfsTer? | |
| NM_001167619.2:c.916_920dup | NP_001161091.1:p.Leu308TyrfsTer? | |
| NM_001258274.2:c.916_920dup | NP_001245203.1:p.Leu308TyrfsTer? | |
| NM_001354615.1:c.916_920dup | NP_001341544.1:p.Leu308TyrfsTer? | |
| NM_001354616.1:c.916_920dup | NP_001341545.1:p.Leu308TyrfsTer? | |
| NM_001354617.1:c.916_920dup | NP_001341546.1:p.Leu308TyrfsTer? | |
| NM_001354618.1:c.916_920dup | NP_001341547.1:p.Leu308TyrfsTer? | |
| NM_001354619.1:c.916_920dup | NP_001341548.1:p.Leu308TyrfsTer? | |
| NM_001354620.1:c.1345_1349dup | NP_001341549.1:p.Leu451TyrfsTer? | |
| NM_001354621.1:c.616_620dup | NP_001341550.1:p.Leu208TyrfsTer? | |
| NM_001354622.1:c.616_620dup | NP_001341551.1:p.Leu208TyrfsTer? | |
| NM_001354623.1:c.616_620dup | NP_001341552.1:p.Leu208TyrfsTer? | |
| NM_001354624.1:c.565_569dup | NP_001341553.1:p.Leu191TyrfsTer? | |
| NM_001354625.1:c.565_569dup | NP_001341554.1:p.Leu191TyrfsTer? | |
| NM_001354626.1:c.565_569dup | NP_001341555.1:p.Leu191TyrfsTer? | |
| NM_001354627.1:c.565_569dup | NP_001341556.1:p.Leu191TyrfsTer? | |
| NM_001354628.1:c.1639_1643dup | NP_001341557.1:p.Leu549TyrfsTer? | |
| NM_001354629.1:c.1540_1544dup | NP_001341558.1:p.Leu516TyrfsTer? | |
| NM_001354630.1:c.1639_1643dup | NP_001341559.1:p.Leu549TyrfsTer? | |
| XM_005265161.2:c.1432_1436dup | XP_005265218.1:p.Leu480TyrfsTer? | |
| XM_017006450.2:c.616_620dup | XP_016861939.1:p.Leu208TyrfsTer? | |
| NM_000249.4:c.1639_1643dup MANE Select | NP_000240.1:p.Leu549TyrfsTer? | |
| NM_001167617.3:c.1345_1349dup | NP_001161089.1:p.Leu451TyrfsTer? | |
| NM_001167618.3:c.916_920dup | NP_001161090.1:p.Leu308TyrfsTer? | |
| NM_001167619.3:c.916_920dup | NP_001161091.1:p.Leu308TyrfsTer? | |
| NM_001258271.2:c.1639_1643dup | NP_001245200.1:p.Leu549TyrfsTer? | |
| NM_001258273.2:c.916_920dup | NP_001245202.1:p.Leu308TyrfsTer? | |
| NM_001258274.3:c.916_920dup | NP_001245203.1:p.Leu308TyrfsTer? | |
| NM_001354615.2:c.916_920dup | NP_001341544.1:p.Leu308TyrfsTer? | |
| NM_001354616.2:c.916_920dup | NP_001341545.1:p.Leu308TyrfsTer? | |
| NM_001354617.2:c.916_920dup | NP_001341546.1:p.Leu308TyrfsTer? | |
| NM_001354618.2:c.916_920dup | NP_001341547.1:p.Leu308TyrfsTer? | |
| NM_001354619.2:c.916_920dup | NP_001341548.1:p.Leu308TyrfsTer? | |
| NM_001354620.2:c.1345_1349dup | NP_001341549.1:p.Leu451TyrfsTer? | |
| NM_001354621.2:c.616_620dup | NP_001341550.1:p.Leu208TyrfsTer? | |
| NM_001354622.2:c.616_620dup | NP_001341551.1:p.Leu208TyrfsTer? | |
| NM_001354623.2:c.616_620dup | NP_001341552.1:p.Leu208TyrfsTer? | |
| NM_001354624.2:c.565_569dup | NP_001341553.1:p.Leu191TyrfsTer? | |
| NM_001354625.2:c.565_569dup | NP_001341554.1:p.Leu191TyrfsTer? | |
| NM_001354626.2:c.565_569dup | NP_001341555.1:p.Leu191TyrfsTer? | |
| NM_001354627.2:c.565_569dup | NP_001341556.1:p.Leu191TyrfsTer? | |
| NM_001354628.2:c.1639_1643dup | NP_001341557.1:p.Leu549TyrfsTer? | |
| NM_001354629.2:c.1540_1544dup | NP_001341558.1:p.Leu516TyrfsTer? | |
| NM_001354630.2:c.1639_1643dup | NP_001341559.1:p.Leu549TyrfsTer? |