Linked Data
ClinVar Variation Id:
251676
dbSNP Id:
rs879254799
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11111573_11111576dup , CM000681.2:g.11111573_11111576dup | GRCh38 |
| NC_000019.9:g.11222249_11222252dup , CM000681.1:g.11222249_11222252dup | GRCh37 |
| NC_000019.8:g.11083249_11083252dup | NCBI36 |
| NG_009060.1:g.27193_27196dup , LRG_274:g.27193_27196dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.1378_1381dup | ENSP00000252444.6:p.Tyr461TrpfsTer7 | |
| ENST00000559340.2:c.1120_1123dup | ENSP00000453696.2:p.Tyr375TrpfsTer7 | |
| ENST00000560467.2:c.1000_1003dup | ENSP00000453513.2:p.Tyr335TrpfsTer7 | |
| ENST00000558518.6:c.1120_1123dup MANE Select | ENSP00000454071.1:p.Tyr375TrpfsTer7 | |
| ENST00000252444.9:c.1374_1377dup | ||
| ENST00000455727.6:c.616_619dup | ENSP00000397829.2:p.Tyr207TrpfsTer7 | |
| ENST00000535915.5:c.997_1000dup | ENSP00000440520.1:p.Tyr334TrpfsTer7 | |
| ENST00000545707.5:c.739_742dup | ENSP00000437639.1:p.Tyr248TrpfsTer7 | |
| ENST00000557933.5:c.1120_1123dup | ENSP00000453557.1:p.Tyr375TrpfsTer7 | |
| ENST00000558013.5:c.1120_1123dup | ENSP00000453346.1:p.Tyr375TrpfsTer7 | |
| ENST00000558518.5:c.1120_1123dup | ENSP00000454071.1:p.Tyr375TrpfsTer7 | |
| ENST00000560173.1:n.119_122dup | ||
| ENST00000560467.1:c.600_603dup | ||
| NM_000527.4:c.1120_1123dup , LRG_274t1:c.1120_1123dup | NP_000518.1:p.Tyr375TrpfsTer7 | |
| NM_001195798.1:c.1120_1123dup | NP_001182727.1:p.Tyr375TrpfsTer7 | |
| NM_001195799.1:c.997_1000dup | NP_001182728.1:p.Tyr334TrpfsTer7 | |
| NM_001195800.1:c.616_619dup | NP_001182729.1:p.Tyr207TrpfsTer7 | |
| NM_001195803.1:c.739_742dup | NP_001182732.1:p.Tyr248TrpfsTer7 | |
| XM_011528010.1:c.1120_1123dup | XP_011526312.1:p.Tyr375TrpfsTer7 | |
| XM_011528011.1:c.739_742dup | XP_011526313.1:p.Tyr248TrpfsTer7 | |
| XR_244074.2:n.1270_1273dup | ||
| XM_011528010.2:c.1120_1123dup | XP_011526312.1:p.Tyr375TrpfsTer7 | |
| XR_001753685.2:n.1237_1240dup | ||
| XR_001753686.2:n.1237_1240dup | ||
| NM_000527.5:c.1120_1123dup MANE Select | NP_000518.1:p.Tyr375TrpfsTer7 | |
| NM_001195798.2:c.1120_1123dup | NP_001182727.1:p.Tyr375TrpfsTer7 | |
| NM_001195799.2:c.997_1000dup | NP_001182728.1:p.Tyr334TrpfsTer7 | |
| NM_001195800.2:c.616_619dup | NP_001182729.1:p.Tyr207TrpfsTer7 | |
| NM_001195803.2:c.739_742dup | NP_001182732.1:p.Tyr248TrpfsTer7 |