Linked Data
dbSNP Id:
rs748406884
ExAC:
13:51522189 T / TA
gnomAD v2:
13-51522189-T-TA
gnomAD v4:
13-50948053-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.50948054dup , CM000675.2:g.50948054dup | GRCh38 |
| NC_000013.10:g.51522190dup , CM000675.1:g.51522190dup | GRCh37 |
| NC_000013.9:g.50420191dup | NCBI36 |
| NG_009055.1:g.43299dup , LRG_279:g.43299dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336617.8:c.684dup MANE Select | ENSP00000337623.2:p.Ser229IlefsTer2 | |
| ENST00000422660.6:c.684dup | ENSP00000389877.1:p.Ser229IlefsTer2 | |
| ENST00000459681.3:n.367dup | ||
| ENST00000495244.7:n.695dup | ||
| ENST00000611510.5:c.594dup | ENSP00000481236.3:p.Ser199IlefsTer2 | |
| ENST00000616907.2:c.684dup | ENSP00000482701.2:p.Ser229IlefsTer2 | |
| ENST00000642207.1:c.423dup | ||
| ENST00000642454.1:c.594dup | ENSP00000494221.1:p.Ser199IlefsTer2 | |
| ENST00000642721.1:c.684dup | ENSP00000495650.1:p.Ser229IlefsTer2 | |
| ENST00000642995.1:c.567dup | ENSP00000493499.1:p.Ser190IlefsTer2 | |
| ENST00000643159.1:c.594dup | ENSP00000495587.1:p.Ser199IlefsTer2 | |
| ENST00000643215.1:c.554dup | ||
| ENST00000643405.1:c.332dup | ||
| ENST00000643529.1:c.197dup | ||
| ENST00000643682.1:c.684dup | ENSP00000493655.1:p.Ser229IlefsTer2 | |
| ENST00000643774.1:c.648dup | ENSP00000495482.1:p.Ser217IlefsTer2 | |
| ENST00000644034.1:c.132dup | ENSP00000495456.1:p.Ser45IlefsTer2 | |
| ENST00000644183.1:c.574dup | ENSP00000495657.1:n.574dup | |
| ENST00000644297.1:c.*542dup | ENSP00000495519.1:n.*542dup | |
| ENST00000644420.1:n.710dup | ||
| ENST00000644425.1:c.635dup | ||
| ENST00000644518.1:c.*551dup | ENSP00000495793.1:n.*551dup | |
| ENST00000645188.1:c.675dup | ENSP00000496224.1:p.Ser226IlefsTer2 | |
| ENST00000645201.1:n.81dup | ||
| ENST00000645333.1:n.616dup | ||
| ENST00000645370.1:c.519dup | ENSP00000494019.1:p.Ser174IlefsTer2 | |
| ENST00000645618.1:c.594dup | ENSP00000495429.1:p.Ser199IlefsTer2 | |
| ENST00000645712.1:n.708dup | ||
| ENST00000645912.1:c.22dup | ||
| ENST00000645955.1:c.684dup | ENSP00000495755.1:p.Ser229IlefsTer2 | |
| ENST00000645990.1:c.684dup | ENSP00000496571.1:p.Ser229IlefsTer2 | |
| ENST00000646092.1:c.648dup | ENSP00000496293.1:p.Ser217IlefsTer2 | |
| ENST00000646279.1:n.981dup | ||
| ENST00000646339.1:c.346dup | ENSP00000495773.1:n.346dup | |
| ENST00000646709.1:c.594dup | ENSP00000495278.1:p.Ser199IlefsTer2 | |
| ENST00000646731.1:c.675dup | ENSP00000493828.1:p.Ser226IlefsTer2 | |
| ENST00000646960.1:c.684dup | ENSP00000496481.1:p.Ser229IlefsTer2 | |
| ENST00000646964.1:n.1323dup | ||
| ENST00000647387.1:c.594dup | ENSP00000495487.1:p.Ser199IlefsTer2 | |
| ENST00000336617.7:c.684dup | ENSP00000337623.2:p.Ser229IlefsTer2 | |
| ENST00000422660.5:c.684dup | ENSP00000389877.1:p.Ser229IlefsTer2 | |
| ENST00000495244.6:n.695dup | ||
| ENST00000611510.4:c.684dup | ENSP00000481236.2:p.Ser229IlefsTer2 | |
| ENST00000613449.4:n.2746dup | ||
| ENST00000616907.1:c.67dup | ||
| ENST00000621641.1:n.272dup | ||
| NM_001142279.2:c.684dup , LRG_279t1:c.684dup | NP_001135751.1:p.Ser229IlefsTer2 | |
| NM_024570.3:c.684dup , LRG_279t2:c.684dup | NP_078846.2:p.Ser229IlefsTer2 | |
| XM_005266524.2:c.684dup | XP_005266581.1:p.Ser229IlefsTer2 | |
| XM_005266525.2:c.684dup | XP_005266582.1:p.Ser229IlefsTer2 | |
| XM_006719867.2:c.666dup | XP_006719930.1:p.Ser223IlefsTer2 | |
| XM_011535229.1:c.684dup | XP_011533531.1:p.Ser229IlefsTer2 | |
| XM_011535230.1:c.684dup | XP_011533532.1:p.Ser229IlefsTer2 | |
| XM_011535231.1:c.684dup | XP_011533533.1:p.Ser229IlefsTer2 | |
| XM_011535232.1:c.522dup | XP_011533534.1:p.Ser175IlefsTer2 | |
| XM_011535233.1:c.276dup | XP_011533535.1:p.Ser93IlefsTer2 | |
| XM_006719867.4:c.666dup | XP_006719930.1:p.Ser223IlefsTer2 | |
| XM_011535230.2:c.684dup | XP_011533532.1:p.Ser229IlefsTer2 | |
| XM_011535231.2:c.684dup | XP_011533533.1:p.Ser229IlefsTer2 | |
| XM_011535233.2:c.276dup | XP_011533535.1:p.Ser93IlefsTer2 | |
| XM_017020747.1:c.684dup | XP_016876236.1:p.Ser229IlefsTer2 | |
| NM_024570.4:c.684dup MANE Select | NP_078846.2:p.Ser229IlefsTer2 |