ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43051110dup , CM000679.2:g.43051110dup | GRCh38 |
| NC_000017.10:g.41203127dup , CM000679.1:g.41203127dup | GRCh37 |
| NC_000017.9:g.38456653dup | NCBI36 |
| NG_005905.2:g.166878dup , LRG_292:g.166878dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5286dup | ENSP00000417241.2:p.Leu1763AlafsTer? | |
| ENST00000470026.6:c.5289dup | ENSP00000419274.2:p.Leu1764AlafsTer? | |
| ENST00000473961.6:c.5163dup | ENSP00000420201.2:p.Leu1722AlafsTer? | |
| ENST00000476777.6:c.5283dup | ENSP00000417554.2:p.Leu1762AlafsTer? | |
| ENST00000477152.6:c.5211dup | ENSP00000419988.2:p.Leu1738AlafsTer? | |
| ENST00000478531.6:c.1977dup | ENSP00000420412.2:p.Leu660AlafsTer? | |
| ENST00000489037.2:c.5211dup | ENSP00000420781.2:p.Leu1738AlafsTer? | |
| ENST00000493919.6:c.1839dup | ENSP00000418819.2:p.Leu614AlafsTer? | |
| ENST00000494123.6:c.5289dup | ENSP00000419103.2:p.Leu1764AlafsTer? | |
| ENST00000497488.2:c.4401dup | ENSP00000418986.2:p.Leu1468AlafsTer? | |
| ENST00000618469.2:c.5289dup | ENSP00000478114.2:p.Leu1764AlafsTer? | |
| ENST00000634433.2:c.5166dup | ENSP00000489431.2:p.Leu1723AlafsTer? | |
| ENST00000644379.2:c.5355dup | ENSP00000496570.2:p.Leu1786AlafsTer? | |
| ENST00000644555.2:c.1839dup | ENSP00000494614.2:p.Leu614AlafsTer? | |
| ENST00000652672.2:c.5148dup | ENSP00000498906.2:p.Leu1717AlafsTer? | |
| ENST00000484087.6:c.1851dup | ENSP00000419481.2:p.Leu618AlafsTer? | |
| ENST00000357654.9:c.5289dup MANE Select | ENSP00000350283.3:p.Leu1764AlafsTer? | |
| ENST00000471181.7:c.5352dup | ENSP00000418960.2:p.Leu1785AlafsTer? | |
| ENST00000644379.1:c.1676dup | ||
| ENST00000352993.7:c.1863dup | ENSP00000312236.5:p.Leu622AlafsTer? | |
| ENST00000357654.7:c.5289dup | ENSP00000350283.3:p.Leu1764AlafsTer? | |
| ENST00000461221.5:c.*5072dup | ENSP00000418548.1:n.*5072dup | |
| ENST00000468300.5:c.1977dup | ENSP00000417148.1:p.Leu660AlafsTer? | |
| ENST00000471181.6:c.5352dup | ENSP00000418960.2:p.Leu1785AlafsTer? | |
| ENST00000491747.6:c.1977dup | ENSP00000420705.2:p.Leu660AlafsTer? | |
| ENST00000493795.5:c.5148dup | ENSP00000418775.1:p.Leu1717AlafsTer? | |
| ENST00000586385.5:c.219dup | ENSP00000465818.1:p.Leu74AlafsTer? | |
| ENST00000591534.5:c.762dup | ENSP00000467329.1:p.Leu255AlafsTer? | |
| ENST00000591849.5:c.-98-916dup | ENSP00000465347.1:n.-98-916dup | |
| NM_007294.3:c.5289dup , LRG_292t1:c.5289dup | NP_009225.1:p.Leu1764AlafsTer? | |
| NM_007297.3:c.5148dup | NP_009228.2:p.Leu1717AlafsTer? | |
| NM_007298.3:c.1977dup | NP_009229.2:p.Leu660AlafsTer? | |
| NM_007299.3:c.1977dup | NP_009230.2:p.Leu660AlafsTer? | |
| NM_007300.3:c.5352dup | NP_009231.2:p.Leu1785AlafsTer? | |
| NR_027676.1:n.5425dup | ||
| NM_007294.4:c.5289dup MANE Select | NP_009225.1:p.Leu1764AlafsTer? | |
| NM_007297.4:c.5148dup | NP_009228.2:p.Leu1717AlafsTer? | |
| NM_007299.4:c.1977dup | NP_009230.2:p.Leu660AlafsTer? | |
| NM_007300.4:c.5352dup | NP_009231.2:p.Leu1785AlafsTer? | |
| NR_027676.2:n.5466dup |