Linked Data
ClinVar Variation Id:
55401
dbSNP Id:
rs80357608
ExAC:
17:41215939 TCA / T
PubMed:
PMID:12204006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43063923_43063924del , CM000679.2:g.43063923_43063924del | GRCh38 |
| NC_000017.10:g.41215940_41215941del , CM000679.1:g.41215940_41215941del | GRCh37 |
| NC_000017.9:g.38469466_38469467del | NCBI36 |
| NG_005905.2:g.154060_154061del , LRG_292:g.154060_154061del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000461574.2:c.5099_5100del | ENSP00000417241.2:p.Leu1700GlnfsTer14 | |
| ENST00000470026.6:c.5102_5103del | ENSP00000419274.2:p.Leu1701GlnfsTer14 | |
| ENST00000473961.6:c.4976_4977del | ENSP00000420201.2:p.Leu1659GlnfsTer14 | |
| ENST00000476777.6:c.5096_5097del | ENSP00000417554.2:p.Leu1699GlnfsTer14 | |
| ENST00000477152.6:c.5024_5025del | ENSP00000419988.2:p.Leu1675GlnfsTer14 | |
| ENST00000478531.6:c.1790_1791del | ENSP00000420412.2:p.Leu597GlnfsTer14 | |
| ENST00000489037.2:c.5024_5025del | ENSP00000420781.2:p.Leu1675GlnfsTer14 | |
| ENST00000493919.6:c.1652_1653del | ENSP00000418819.2:p.Leu551GlnfsTer14 | |
| ENST00000494123.6:c.5102_5103del | ENSP00000419103.2:p.Leu1701GlnfsTer14 | |
| ENST00000497488.2:c.4214_4215del | ENSP00000418986.2:p.Leu1405GlnfsTer14 | |
| ENST00000618469.2:c.5102_5103del | ENSP00000478114.2:p.Leu1701GlnfsTer14 | |
| ENST00000634433.2:c.4979_4980del | ENSP00000489431.2:p.Leu1660GlnfsTer14 | |
| ENST00000644379.2:c.5168_5169del | ENSP00000496570.2:p.Leu1723GlnfsTer14 | |
| ENST00000644555.2:c.1652_1653del | ENSP00000494614.2:p.Leu551GlnfsTer14 | |
| ENST00000652672.2:c.4961_4962del | ENSP00000498906.2:p.Leu1654GlnfsTer14 | |
| ENST00000484087.6:c.1664_1665del | ENSP00000419481.2:p.Leu555GlnfsTer14 | |
| ENST00000357654.9:c.5102_5103del MANE Select | ENSP00000350283.3:p.Leu1701GlnfsTer14 | |
| ENST00000471181.7:c.5165_5166del | ENSP00000418960.2:p.Leu1722GlnfsTer14 | |
| ENST00000644379.1:c.1489_1490del | ||
| ENST00000352993.7:c.1676_1677del | ENSP00000312236.5:p.Leu559GlnfsTer14 | |
| ENST00000357654.7:c.5102_5103del | ENSP00000350283.3:p.Leu1701GlnfsTer14 | |
| ENST00000461221.5:c.*4885_*4886del | ENSP00000418548.1:n.*4885_*4886del | |
| ENST00000468300.5:c.1790_1791del | ENSP00000417148.1:p.Leu597GlnfsTer14 | |
| ENST00000471181.6:c.5165_5166del | ENSP00000418960.2:p.Leu1722GlnfsTer14 | |
| ENST00000478531.5:c.1790_1791del | ENSP00000420412.1:p.Leu597GlnfsTer14 | |
| ENST00000484087.5:c.1415_1416del | ENSP00000419481.1:p.Leu472GlnfsTer14 | |
| ENST00000491747.6:c.1790_1791del | ENSP00000420705.2:p.Leu597GlnfsTer14 | |
| ENST00000493795.5:c.4961_4962del | ENSP00000418775.1:p.Leu1654GlnfsTer14 | |
| ENST00000493919.5:c.1652_1653del | ENSP00000418819.1:p.Leu551GlnfsTer14 | |
| ENST00000586385.5:c.32_33del | ENSP00000465818.1:p.Leu11GlnfsTer14 | |
| ENST00000591534.5:c.575_576del | ENSP00000467329.1:p.Leu192GlnfsTer14 | |
| ENST00000591849.5:c.-98-13734_-98-13733del | ENSP00000465347.1:n.-98-13734_-98-13733de... | |
| NM_007294.3:c.5102_5103del , LRG_292t1:c.5102_5103del | NP_009225.1:p.Leu1701GlnfsTer14 | |
| NM_007297.3:c.4961_4962del | NP_009228.2:p.Leu1654GlnfsTer14 | |
| NM_007298.3:c.1790_1791del | NP_009229.2:p.Leu597GlnfsTer14 | |
| NM_007299.3:c.1790_1791del | NP_009230.2:p.Leu597GlnfsTer14 | |
| NM_007300.3:c.5165_5166del | NP_009231.2:p.Leu1722GlnfsTer14 | |
| NR_027676.1:n.5238_5239del | ||
| NM_007294.4:c.5102_5103del MANE Select | NP_009225.1:p.Leu1701GlnfsTer14 | |
| NM_007297.4:c.4961_4962del | NP_009228.2:p.Leu1654GlnfsTer14 | |
| NM_007299.4:c.1790_1791del | NP_009230.2:p.Leu597GlnfsTer14 | |
| NM_007300.4:c.5165_5166del | NP_009231.2:p.Leu1722GlnfsTer14 | |
| NR_027676.2:n.5279_5280del |