ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43074381_43074382del , CM000679.2:g.43074381_43074382del | GRCh38 |
| NC_000017.10:g.41226398_41226399del , CM000679.1:g.41226398_41226399del | GRCh37 |
| NC_000017.9:g.38479924_38479925del | NCBI36 |
| NG_005905.2:g.143603_143604del , LRG_292:g.143603_143604del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4622_4623del | ENSP00000417241.2:p.Ser1541TrpfsTer? | |
| ENST00000470026.6:c.4625_4626del | ENSP00000419274.2:p.Ser1542TrpfsTer? | |
| ENST00000473961.6:c.4499_4500del | ENSP00000420201.2:p.Ser1500TrpfsTer? | |
| ENST00000476777.6:c.4619_4620del | ENSP00000417554.2:p.Ser1540TrpfsTer? | |
| ENST00000477152.6:c.4547_4548del | ENSP00000419988.2:p.Ser1516TrpfsTer? | |
| ENST00000478531.6:c.1313_1314del | ENSP00000420412.2:p.Ser438TrpfsTer? | |
| ENST00000489037.2:c.4547_4548del | ENSP00000420781.2:p.Ser1516TrpfsTer? | |
| ENST00000493919.6:c.1175_1176del | ENSP00000418819.2:p.Ser392TrpfsTer? | |
| ENST00000494123.6:c.4625_4626del | ENSP00000419103.2:p.Ser1542TrpfsTer? | |
| ENST00000497488.2:c.3737_3738del | ENSP00000418986.2:p.Ser1246TrpfsTer? | |
| ENST00000618469.2:c.4625_4626del | ENSP00000478114.2:p.Ser1542TrpfsTer? | |
| ENST00000634433.2:c.4502_4503del | ENSP00000489431.2:p.Ser1501TrpfsTer? | |
| ENST00000644379.2:c.4691_4692del | ENSP00000496570.2:p.Ser1564TrpfsTer? | |
| ENST00000644555.2:c.1175_1176del | ENSP00000494614.2:p.Ser392TrpfsTer? | |
| ENST00000652672.2:c.4484_4485del | ENSP00000498906.2:p.Ser1495TrpfsTer? | |
| ENST00000484087.6:c.1187_1188del | ENSP00000419481.2:p.Ser396TrpfsTer? | |
| ENST00000700182.1:c.1232_1233del | ENSP00000514849.1:p.Ser411TrpfsTer? | |
| ENST00000357654.9:c.4625_4626del MANE Select | ENSP00000350283.3:p.Ser1542TrpfsTer? | |
| ENST00000471181.7:c.4688_4689del | ENSP00000418960.2:p.Ser1563TrpfsTer? | |
| ENST00000644379.1:c.1012_1013del | ||
| ENST00000352993.7:c.1199_1200del | ENSP00000312236.5:p.Ser400TrpfsTer? | |
| ENST00000357654.7:c.4625_4626del | ENSP00000350283.3:p.Ser1542TrpfsTer? | |
| ENST00000461221.5:c.*4408_*4409del | ENSP00000418548.1:n.*4408_*4409del | |
| ENST00000468300.5:c.1313_1314del | ENSP00000417148.1:p.Ser438TrpfsTer? | |
| ENST00000471181.6:c.4688_4689del | ENSP00000418960.2:p.Ser1563TrpfsTer? | |
| ENST00000478531.5:c.1313_1314del | ENSP00000420412.1:p.Ser438TrpfsTer? | |
| ENST00000484087.5:c.938_939del | ENSP00000419481.1:p.Ser313TrpfsTer? | |
| ENST00000491747.6:c.1313_1314del | ENSP00000420705.2:p.Ser438TrpfsTer? | |
| ENST00000493795.5:c.4484_4485del | ENSP00000418775.1:p.Ser1495TrpfsTer? | |
| ENST00000493919.5:c.1175_1176del | ENSP00000418819.1:p.Ser392TrpfsTer? | |
| ENST00000586385.5:c.5-10430_5-10429del | ENSP00000465818.1:n.5-10430_5-10429del | |
| ENST00000591534.5:c.98_99del | ENSP00000467329.1:p.Ser33TrpfsTer? | |
| ENST00000591849.5:c.-98-24191_-98-24190del | ENSP00000465347.1:n.-98-24191_-98-24190del | |
| NM_007294.3:c.4625_4626del , LRG_292t1:c.4625_4626del | NP_009225.1:p.Ser1542TrpfsTer? | |
| NM_007297.3:c.4484_4485del | NP_009228.2:p.Ser1495TrpfsTer? | |
| NM_007298.3:c.1313_1314del | NP_009229.2:p.Ser438TrpfsTer? | |
| NM_007299.3:c.1313_1314del | NP_009230.2:p.Ser438TrpfsTer? | |
| NM_007300.3:c.4688_4689del | NP_009231.2:p.Ser1563TrpfsTer? | |
| NR_027676.1:n.4761_4762del | ||
| NM_007294.4:c.4625_4626del MANE Select | NP_009225.1:p.Ser1542TrpfsTer? | |
| NM_007297.4:c.4484_4485del | NP_009228.2:p.Ser1495TrpfsTer? | |
| NM_007299.4:c.1313_1314del | NP_009230.2:p.Ser438TrpfsTer? | |
| NM_007300.4:c.4688_4689del | NP_009231.2:p.Ser1563TrpfsTer? | |
| NR_027676.2:n.4802_4803del |