Linked Data
ClinVar Variation Id:
55523
dbSNP Id:
rs80357823
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43051077dup , CM000679.2:g.43051077dup | GRCh38 |
| NC_000017.10:g.41203094dup , CM000679.1:g.41203094dup | GRCh37 |
| NC_000017.9:g.38456620dup | NCBI36 |
| NG_005905.2:g.166908dup , LRG_292:g.166908dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000461574.2:c.5316dup | ENSP00000417241.2:p.Asn1773GlnfsTer? | |
| ENST00000470026.6:c.5319dup | ENSP00000419274.2:p.Asn1774GlnfsTer? | |
| ENST00000473961.6:c.5193dup | ENSP00000420201.2:p.Asn1732GlnfsTer? | |
| ENST00000476777.6:c.5313dup | ENSP00000417554.2:p.Asn1772GlnfsTer? | |
| ENST00000477152.6:c.5241dup | ENSP00000419988.2:p.Asn1748GlnfsTer? | |
| ENST00000478531.6:c.2007dup | ENSP00000420412.2:p.Asn670GlnfsTer? | |
| ENST00000489037.2:c.5241dup | ENSP00000420781.2:p.Asn1748GlnfsTer? | |
| ENST00000493919.6:c.1869dup | ENSP00000418819.2:p.Asn624GlnfsTer? | |
| ENST00000494123.6:c.5319dup | ENSP00000419103.2:p.Asn1774GlnfsTer? | |
| ENST00000497488.2:c.4431dup | ENSP00000418986.2:p.Asn1478GlnfsTer? | |
| ENST00000618469.2:c.5319dup | ENSP00000478114.2:p.Asn1774GlnfsTer? | |
| ENST00000634433.2:c.5196dup | ENSP00000489431.2:p.Asn1733GlnfsTer? | |
| ENST00000644379.2:c.5385dup | ENSP00000496570.2:p.Asn1796GlnfsTer? | |
| ENST00000644555.2:c.1869dup | ENSP00000494614.2:p.Asn624GlnfsTer? | |
| ENST00000652672.2:c.5178dup | ENSP00000498906.2:p.Asn1727GlnfsTer? | |
| ENST00000484087.6:c.1881dup | ENSP00000419481.2:p.Asn628GlnfsTer? | |
| ENST00000357654.9:c.5319dup MANE Select | ENSP00000350283.3:p.Asn1774GlnfsTer? | |
| ENST00000471181.7:c.5382dup | ENSP00000418960.2:p.Asn1795GlnfsTer? | |
| ENST00000644379.1:c.1706dup | ||
| ENST00000352993.7:c.1893dup | ENSP00000312236.5:p.Asn632GlnfsTer? | |
| ENST00000357654.7:c.5319dup | ENSP00000350283.3:p.Asn1774GlnfsTer? | |
| ENST00000461221.5:c.*5102dup | ENSP00000418548.1:n.*5102dup | |
| ENST00000468300.5:c.2007dup | ENSP00000417148.1:p.Asn670GlnfsTer? | |
| ENST00000471181.6:c.5382dup | ENSP00000418960.2:p.Asn1795GlnfsTer? | |
| ENST00000491747.6:c.2007dup | ENSP00000420705.2:p.Asn670GlnfsTer? | |
| ENST00000493795.5:c.5178dup | ENSP00000418775.1:p.Asn1727GlnfsTer? | |
| ENST00000586385.5:c.249dup | ENSP00000465818.1:p.Asn84GlnfsTer? | |
| ENST00000591534.5:c.792dup | ENSP00000467329.1:p.Asn265GlnfsTer? | |
| ENST00000591849.5:c.-98-886dup | ENSP00000465347.1:n.-98-886dup | |
| NM_007294.3:c.5319dup , LRG_292t1:c.5319dup | NP_009225.1:p.Asn1774GlnfsTer? | |
| NM_007297.3:c.5178dup | NP_009228.2:p.Asn1727GlnfsTer? | |
| NM_007298.3:c.2007dup | NP_009229.2:p.Asn670GlnfsTer? | |
| NM_007299.3:c.2007dup | NP_009230.2:p.Asn670GlnfsTer? | |
| NM_007300.3:c.5382dup | NP_009231.2:p.Asn1795GlnfsTer? | |
| NR_027676.1:n.5455dup | ||
| NM_007294.4:c.5319dup MANE Select | NP_009225.1:p.Asn1774GlnfsTer? | |
| NM_007297.4:c.5178dup | NP_009228.2:p.Asn1727GlnfsTer? | |
| NM_007299.4:c.2007dup | NP_009230.2:p.Asn670GlnfsTer? | |
| NM_007300.4:c.5382dup | NP_009231.2:p.Asn1795GlnfsTer? | |
| NR_027676.2:n.5496dup |