Linked Data
dbSNP Id:
rs150589779
gnomAD v2:
1-60206704-C-CAGTT
gnomAD v3:
1-59741032-C-CAGTT
gnomAD v4:
1-59741032-C-CAGTT
MyVariant Identifiers:
chr1:g.60206704_60206705insAGTT (hg19)
chr1:g.59741032_59741033insAGTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.59741033_59741036dup , CM000663.2:g.59741033_59741036dup | GRCh38 |
| NC_000001.10:g.60206705_60206708dup , CM000663.1:g.60206705_60206708dup | GRCh37 |
| NC_000001.9:g.59979293_59979296dup | NCBI36 |
| NG_030039.1:g.449081_449084dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303721.12:c.1513-16898_1513-16895dup MANE Select | ENSP00000305922.8:n.1513-16898_1513-16895dup | |
| ENST00000303721.11:c.1513-16898_1513-16895dup | ENSP00000305922.7:n.1513-16898_1513-16895dup | |
| ENST00000371210.1:c.616-16898_616-16895dup | ENSP00000360254.1:n.616-16898_616-16895dup | |
| ENST00000371212.5:c.1249-16898_1249-16895dup | ENSP00000360256.1:n.1249-16898_1249-16895dup | |
| ENST00000371218.8:c.1585-16898_1585-16895dup | ENSP00000360262.4:n.1585-16898_1585-16895dup | |
| ENST00000424725.2:c.*633-31735_*633-31732dup | ENSP00000489345.1:n.*633-31735_*633-31732dup | |
| ENST00000471169.5:n.206-16898_206-16895dup | ||
| ENST00000472783.5:n.230-16898_230-16895dup | ||
| ENST00000476939.5:n.76-16898_76-16895dup | ||
| ENST00000493891.5:n.380-16898_380-16895dup | ||
| ENST00000634364.1:c.1513-31735_1513-31732dup | ENSP00000489446.1:n.1513-31735_1513-31732dup | |
| ENST00000634399.1:c.*1195-16898_*1195-16895dup | ENSP00000489146.1:n.*1195-16898_*1195-16895dup | |
| ENST00000634606.1:c.*279-16898_*279-16895dup | ENSP00000489030.1:n.*279-16898_*279-16895dup | |
| ENST00000635156.1:c.1249-16898_1249-16895dup | ENSP00000489417.1:n.1249-16898_1249-16895dup | |
| ENST00000635297.1:c.*279-16898_*279-16895dup | ENSP00000489549.1:n.*279-16898_*279-16895dup | |
| NM_001113411.1:c.1585-16898_1585-16895dup | NP_001106882.1:n.1585-16898_1585-16895dup | |
| NM_001244714.1:c.1249-16898_1249-16895dup | NP_001231643.1:n.1249-16898_1249-16895dup | |
| NM_001278224.1:c.616-16898_616-16895dup | NP_001265153.1:n.616-16898_616-16895dup | |
| NM_018291.3:c.1513-16898_1513-16895dup | NP_060761.3:n.1513-16898_1513-16895dup | |
| XM_011541729.1:c.1490-16898_1490-16895dup | XP_011540031.1:n.1490-16898_1490-16895dup | |
| XM_011541730.1:c.1585-16898_1585-16895dup | XP_011540032.1:n.1585-16898_1585-16895dup | |
| XM_011541731.1:c.1585-16898_1585-16895dup | XP_011540033.1:n.1585-16898_1585-16895dup | |
| XM_011541732.1:c.1585-16898_1585-16895dup | XP_011540034.1:n.1585-16898_1585-16895dup | |
| XM_011541733.1:c.1585-16898_1585-16895dup | XP_011540035.1:n.1585-16898_1585-16895dup | |
| XM_011541734.1:c.1418-16898_1418-16895dup | XP_011540036.1:n.1418-16898_1418-16895dup | |
| XM_011541735.1:c.1513-16898_1513-16895dup | XP_011540037.1:n.1513-16898_1513-16895dup | |
| XM_011541736.1:c.1321-16898_1321-16895dup | XP_011540038.1:n.1321-16898_1321-16895dup | |
| XM_011541738.1:c.961-16898_961-16895dup | XP_011540040.1:n.961-16898_961-16895dup | |
| XR_946697.1:n.1379-16898_1379-16895dup | ||
| XR_946698.1:n.1284-16898_1284-16895dup | ||
| NM_001350790.1:c.1585-16898_1585-16895dup | NP_001337719.1:n.1585-16898_1585-16895dup | |
| NM_001350791.1:c.1513-16898_1513-16895dup | NP_001337720.1:n.1513-16898_1513-16895dup | |
| NM_001350792.1:c.1345-16898_1345-16895dup | NP_001337721.1:n.1345-16898_1345-16895dup | |
| NM_001350793.1:c.1345-16898_1345-16895dup | NP_001337722.1:n.1345-16898_1345-16895dup | |
| NM_001350794.1:c.1418-16898_1418-16895dup | NP_001337723.1:n.1418-16898_1418-16895dup | |
| NM_001350795.1:c.1321-16898_1321-16895dup | NP_001337724.1:n.1321-16898_1321-16895dup | |
| NM_001350796.1:c.1177-16898_1177-16895dup | NP_001337725.1:n.1177-16898_1177-16895dup | |
| NM_001350797.1:c.1111-16898_1111-16895dup | NP_001337726.1:n.1111-16898_1111-16895dup | |
| NM_001350798.1:c.1154-16898_1154-16895dup | NP_001337727.1:n.1154-16898_1154-16895dup | |
| NM_001350799.1:c.1082-16898_1082-16895dup | NP_001337728.1:n.1082-16898_1082-16895dup | |
| XM_011541736.3:c.1321-16898_1321-16895dup | XP_011540038.1:n.1321-16898_1321-16895dup | |
| XM_017001643.2:c.1585-16898_1585-16895dup | XP_016857132.1:n.1585-16898_1585-16895dup | |
| XM_017001645.1:c.1513-16898_1513-16895dup | XP_016857134.1:n.1513-16898_1513-16895dup | |
| XM_017001646.1:c.1513-16898_1513-16895dup | XP_016857135.1:n.1513-16898_1513-16895dup | |
| XM_017001649.1:c.1490-16898_1490-16895dup | XP_016857138.1:n.1490-16898_1490-16895dup | |
| XM_017001652.1:c.1418-16898_1418-16895dup | XP_016857141.1:n.1418-16898_1418-16895dup | |
| XM_017001655.1:c.1321-16898_1321-16895dup | XP_016857144.1:n.1321-16898_1321-16895dup | |
| XM_017001656.1:c.1249-16898_1249-16895dup | XP_016857145.1:n.1249-16898_1249-16895dup | |
| XM_017001657.2:c.1249-16898_1249-16895dup | XP_016857146.1:n.1249-16898_1249-16895dup | |
| XM_017001659.2:c.1249-16898_1249-16895dup | XP_016857148.1:n.1249-16898_1249-16895dup | |
| XM_017001660.2:c.1249-16898_1249-16895dup | XP_016857149.1:n.1249-16898_1249-16895dup | |
| XM_017001661.2:c.1249-16898_1249-16895dup | XP_016857150.1:n.1249-16898_1249-16895dup | |
| XM_017001662.2:c.1249-16898_1249-16895dup | XP_016857151.1:n.1249-16898_1249-16895dup | |
| XM_017001663.2:c.1249-16898_1249-16895dup | XP_016857152.1:n.1249-16898_1249-16895dup | |
| XM_017001664.2:c.1249-16898_1249-16895dup | XP_016857153.1:n.1249-16898_1249-16895dup | |
| XM_017001666.1:c.1249-16898_1249-16895dup | XP_016857155.1:n.1249-16898_1249-16895dup | |
| XM_017001668.1:c.1183-16898_1183-16895dup | XP_016857157.1:n.1183-16898_1183-16895dup | |
| XM_017001669.2:c.1183-16898_1183-16895dup | XP_016857158.1:n.1183-16898_1183-16895dup | |
| XM_017001670.2:c.1183-16898_1183-16895dup | XP_016857159.1:n.1183-16898_1183-16895dup | |
| XM_017001671.1:c.1183-16898_1183-16895dup | XP_016857160.1:n.1183-16898_1183-16895dup | |
| XM_017001673.2:c.1177-16898_1177-16895dup | XP_016857162.1:n.1177-16898_1177-16895dup | |
| XM_017001677.1:c.961-16898_961-16895dup | XP_016857166.1:n.961-16898_961-16895dup | |
| XM_017001678.1:c.961-16898_961-16895dup | XP_016857167.1:n.961-16898_961-16895dup | |
| XM_024448176.1:c.1585-16898_1585-16895dup | XP_024303944.1:n.1585-16898_1585-16895dup | |
| XM_024448185.1:c.1417-16898_1417-16895dup | XP_024303953.1:n.1417-16898_1417-16895dup | |
| XM_024448196.1:c.1417-16898_1417-16895dup | XP_024303964.1:n.1417-16898_1417-16895dup | |
| XM_024448207.1:c.1418-16898_1418-16895dup | XP_024303975.1:n.1418-16898_1418-16895dup | |
| XM_024448220.1:c.1177-16898_1177-16895dup | XP_024303988.1:n.1177-16898_1177-16895dup | |
| XM_024448227.1:c.889-16898_889-16895dup | XP_024303995.1:n.889-16898_889-16895dup | |
| XM_024448229.1:c.889-16898_889-16895dup | XP_024303997.1:n.889-16898_889-16895dup | |
| XR_001737284.1:n.1546-16898_1546-16895dup | ||
| XR_001737285.1:n.1501-16898_1501-16895dup | ||
| XR_001737286.1:n.1478-16898_1478-16895dup | ||
| XR_001737287.1:n.1451-16898_1451-16895dup | ||
| NM_001113411.2:c.1585-16898_1585-16895dup | NP_001106882.1:n.1585-16898_1585-16895dup | |
| NM_001244714.2:c.1249-16898_1249-16895dup | NP_001231643.1:n.1249-16898_1249-16895dup | |
| NM_001278224.2:c.616-16898_616-16895dup | NP_001265153.1:n.616-16898_616-16895dup | |
| NM_001350790.2:c.1585-16898_1585-16895dup | NP_001337719.1:n.1585-16898_1585-16895dup | |
| NM_001350791.2:c.1513-16898_1513-16895dup | NP_001337720.1:n.1513-16898_1513-16895dup | |
| NM_001350792.2:c.1345-16898_1345-16895dup | NP_001337721.1:n.1345-16898_1345-16895dup | |
| NM_001350793.2:c.1345-16898_1345-16895dup | NP_001337722.1:n.1345-16898_1345-16895dup | |
| NM_001350794.2:c.1418-16898_1418-16895dup | NP_001337723.1:n.1418-16898_1418-16895dup | |
| NM_001350795.2:c.1321-16898_1321-16895dup | NP_001337724.1:n.1321-16898_1321-16895dup | |
| NM_001350796.2:c.1177-16898_1177-16895dup | NP_001337725.1:n.1177-16898_1177-16895dup | |
| NM_001350797.2:c.1111-16898_1111-16895dup | NP_001337726.1:n.1111-16898_1111-16895dup | |
| NM_001350798.2:c.1154-16898_1154-16895dup | NP_001337727.1:n.1154-16898_1154-16895dup | |
| NM_001350799.2:c.1082-16898_1082-16895dup | NP_001337728.1:n.1082-16898_1082-16895dup | |
| NM_018291.5:c.1513-16898_1513-16895dup MANE Select | NP_060761.3:n.1513-16898_1513-16895dup |