ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43091011_43091012del , CM000679.2:g.43091011_43091012del | GRCh38 |
| NC_000017.10:g.41243028_41243029del , CM000679.1:g.41243028_41243029del | GRCh37 |
| NC_000017.9:g.38496554_38496555del | NCBI36 |
| NG_005905.2:g.126975_126976del , LRG_292:g.126975_126976del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4120_4121del | ENSP00000417241.2:p.Ser1374Ter | |
| ENST00000470026.6:c.4120_4121del | ENSP00000419274.2:p.Ser1374Ter | |
| ENST00000473961.6:c.3994_3995del | ENSP00000420201.2:p.Ser1332Ter | |
| ENST00000476777.6:c.4117_4118del | ENSP00000417554.2:p.Ser1373Ter | |
| ENST00000477152.6:c.4042_4043del | ENSP00000419988.2:p.Ser1348Ter | |
| ENST00000478531.6:c.808_809del | ENSP00000420412.2:p.Ser270Ter | |
| ENST00000489037.2:c.4042_4043del | ENSP00000420781.2:p.Ser1348Ter | |
| ENST00000493919.6:c.670_671del | ENSP00000418819.2:p.Ser224Ter | |
| ENST00000494123.6:c.4120_4121del | ENSP00000419103.2:p.Ser1374Ter | |
| ENST00000497488.2:c.3232_3233del | ENSP00000418986.2:p.Ser1078Ter | |
| ENST00000618469.2:c.4120_4121del | ENSP00000478114.2:p.Ser1374Ter | |
| ENST00000634433.2:c.3997_3998del | ENSP00000489431.2:p.Ser1333Ter | |
| ENST00000644379.2:c.4120_4121del | ENSP00000496570.2:p.Ser1374Ter | |
| ENST00000644555.2:c.670_671del | ENSP00000494614.2:p.Ser224Ter | |
| ENST00000652672.2:c.3979_3980del | ENSP00000498906.2:p.Ser1327Ter | |
| ENST00000484087.6:c.688_689del | ENSP00000419481.2:p.Ser230Ter | |
| ENST00000700182.1:c.730_731del | ENSP00000514849.1:p.Ser244Ter | |
| ENST00000357654.9:c.4120_4121del MANE Select | ENSP00000350283.3:p.Ser1374Ter | |
| ENST00000471181.7:c.4120_4121del | ENSP00000418960.2:p.Ser1374Ter | |
| ENST00000644379.1:c.441_442del | ||
| ENST00000352993.7:c.694_695del | ENSP00000312236.5:p.Ser232Ter | |
| ENST00000357654.7:c.4120_4121del | ENSP00000350283.3:p.Ser1374Ter | |
| ENST00000461221.5:c.*3903_*3904del | ENSP00000418548.1:n.*3903_*3904del | |
| ENST00000461574.1:c.414_415del | ||
| ENST00000468300.5:c.811_812del | ENSP00000417148.1:p.Ser271Ter | |
| ENST00000471181.6:c.4120_4121del | ENSP00000418960.2:p.Ser1374Ter | |
| ENST00000478531.5:c.808_809del | ENSP00000420412.1:p.Ser270Ter | |
| ENST00000484087.5:c.433_434del | ENSP00000419481.1:p.Ser145Ter | |
| ENST00000487825.5:c.436_437del | ENSP00000418212.1:p.Ser146Ter | |
| ENST00000491747.6:c.811_812del | ENSP00000420705.2:p.Ser271Ter | |
| ENST00000493795.5:c.3979_3980del | ENSP00000418775.1:p.Ser1327Ter | |
| ENST00000493919.5:c.670_671del | ENSP00000418819.1:p.Ser224Ter | |
| ENST00000586385.5:c.5-27058_5-27057del | ENSP00000465818.1:n.5-27058_5-27057del | |
| ENST00000591534.5:c.-43-16488_-43-16487del | ENSP00000467329.1:n.-43-16488_-43-16487del | |
| ENST00000591849.5:c.-99+34262_-99+34263del | ENSP00000465347.1:n.-99+34262_-99+34263del | |
| NM_007294.3:c.4120_4121del , LRG_292t1:c.4120_4121del | NP_009225.1:p.Ser1374Ter | |
| NM_007297.3:c.3979_3980del | NP_009228.2:p.Ser1327Ter | |
| NM_007298.3:c.811_812del | NP_009229.2:p.Ser271Ter | |
| NM_007299.3:c.811_812del | NP_009230.2:p.Ser271Ter | |
| NM_007300.3:c.4120_4121del | NP_009231.2:p.Ser1374Ter | |
| NR_027676.1:n.4256_4257del | ||
| NM_007294.4:c.4120_4121del MANE Select | NP_009225.1:p.Ser1374Ter | |
| NM_007297.4:c.3979_3980del | NP_009228.2:p.Ser1327Ter | |
| NM_007299.4:c.811_812del | NP_009230.2:p.Ser271Ter | |
| NM_007300.4:c.4120_4121del | NP_009231.2:p.Ser1374Ter | |
| NR_027676.2:n.4297_4298del |