ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43051110del , CM000679.2:g.43051110del | GRCh38 |
| NC_000017.10:g.41203127del , CM000679.1:g.41203127del | GRCh37 |
| NC_000017.9:g.38456653del | NCBI36 |
| NG_005905.2:g.166878del , LRG_292:g.166878del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5286del | ENSP00000417241.2:p.Leu1763Ter | |
| ENST00000470026.6:c.5289del | ENSP00000419274.2:p.Leu1764Ter | |
| ENST00000473961.6:c.5163del | ENSP00000420201.2:p.Leu1722Ter | |
| ENST00000476777.6:c.5283del | ENSP00000417554.2:p.Leu1762Ter | |
| ENST00000477152.6:c.5211del | ENSP00000419988.2:p.Leu1738Ter | |
| ENST00000478531.6:c.1977del | ENSP00000420412.2:p.Leu660Ter | |
| ENST00000489037.2:c.5211del | ENSP00000420781.2:p.Leu1738Ter | |
| ENST00000493919.6:c.1839del | ENSP00000418819.2:p.Leu614Ter | |
| ENST00000494123.6:c.5289del | ENSP00000419103.2:p.Leu1764Ter | |
| ENST00000497488.2:c.4401del | ENSP00000418986.2:p.Leu1468Ter | |
| ENST00000618469.2:c.5289del | ENSP00000478114.2:p.Leu1764Ter | |
| ENST00000634433.2:c.5166del | ENSP00000489431.2:p.Leu1723Ter | |
| ENST00000644379.2:c.5355del | ENSP00000496570.2:p.Leu1786Ter | |
| ENST00000644555.2:c.1839del | ENSP00000494614.2:p.Leu614Ter | |
| ENST00000652672.2:c.5148del | ENSP00000498906.2:p.Leu1717Ter | |
| ENST00000484087.6:c.1851del | ENSP00000419481.2:p.Leu618Ter | |
| ENST00000357654.9:c.5289del MANE Select | ENSP00000350283.3:p.Leu1764Ter | |
| ENST00000471181.7:c.5352del | ENSP00000418960.2:p.Leu1785Ter | |
| ENST00000644379.1:c.1676del | ||
| ENST00000352993.7:c.1863del | ENSP00000312236.5:p.Leu622Ter | |
| ENST00000357654.7:c.5289del | ENSP00000350283.3:p.Leu1764Ter | |
| ENST00000461221.5:c.*5072del | ENSP00000418548.1:n.*5072del | |
| ENST00000468300.5:c.1977del | ENSP00000417148.1:p.Leu660Ter | |
| ENST00000471181.6:c.5352del | ENSP00000418960.2:p.Leu1785Ter | |
| ENST00000491747.6:c.1977del | ENSP00000420705.2:p.Leu660Ter | |
| ENST00000493795.5:c.5148del | ENSP00000418775.1:p.Leu1717Ter | |
| ENST00000586385.5:c.219del | ENSP00000465818.1:p.Leu74Ter | |
| ENST00000591534.5:c.762del | ENSP00000467329.1:p.Leu255Ter | |
| ENST00000591849.5:c.-98-916del | ENSP00000465347.1:n.-98-916del | |
| NM_007294.3:c.5289del , LRG_292t1:c.5289del | NP_009225.1:p.Leu1764Ter | |
| NM_007297.3:c.5148del | NP_009228.2:p.Leu1717Ter | |
| NM_007298.3:c.1977del | NP_009229.2:p.Leu660Ter | |
| NM_007299.3:c.1977del | NP_009230.2:p.Leu660Ter | |
| NM_007300.3:c.5352del | NP_009231.2:p.Leu1785Ter | |
| NR_027676.1:n.5425del | ||
| NM_007294.4:c.5289del MANE Select | NP_009225.1:p.Leu1764Ter | |
| NM_007297.4:c.5148del | NP_009228.2:p.Leu1717Ter | |
| NM_007299.4:c.1977del | NP_009230.2:p.Leu660Ter | |
| NM_007300.4:c.5352del | NP_009231.2:p.Leu1785Ter | |
| NR_027676.2:n.5466del |