Canonical Allele Identifier: CA341293
Gene: JUP HGNC NCBI

Linked Data

ClinVar Variation Id: 13599
ClinVar RCV Id: RCV000014569 RCV000481302 RCV001731287 RCV003764573
dbSNP Id: rs113994177
gnomAD v4: 17-41757421-CCA-C
MyVariant Identifiers: chr17:g.39913674_39913675del (hg19) chr17:g.41757422_41757423del (hg38)
PubMed: PMID:10902626 PMID:20301310
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41757422_41757423del , CM000679.2:g.41757422_41757423del GRCh38
NC_000017.10:g.39913674_39913675del , CM000679.1:g.39913674_39913675del GRCh37
NC_000017.9:g.37167200_37167201del NCBI36
NG_009090.2:g.34290_34291del , LRG_401:g.34290_34291del

Transcript Alleles

HGVS Amino-acid change
ENST00000393931.8:c.2038_2039del MANE Select ENSP00000377508.3:p.Trp680GlyfsTer11
ENST00000310706.9:c.2038_2039del ENSP00000311113.5:p.Trp680GlyfsTer11
ENST00000393930.5:c.2038_2039del ENSP00000377507.1:p.Trp680GlyfsTer11
ENST00000393931.7:c.2038_2039del ENSP00000377508.3:p.Trp680GlyfsTer11
NM_002230.2:c.2038_2039del , LRG_401t2:c.2038_2039del NP_002221.1:p.Trp680GlyfsTer11
NM_021991.2:c.2038_2039del , LRG_401t1:c.2038_2039del NP_068831.1:p.Trp680GlyfsTer11
XM_006721873.1:c.2038_2039del XP_006721936.1:p.Trp680GlyfsTer11
XM_006721874.1:c.2038_2039del XP_006721937.1:p.Trp680GlyfsTer11
XM_006721875.1:c.2038_2039del XP_006721938.1:p.Trp680GlyfsTer11
XM_006721878.1:c.2038_2039del XP_006721941.1:p.Trp680GlyfsTer11
XM_011524753.1:c.2038_2039del XP_011523055.1:p.Trp680GlyfsTer11
XM_011524754.1:c.2038_2039del XP_011523056.1:p.Trp680GlyfsTer11
XM_011524755.1:c.2038_2039del XP_011523057.1:p.Trp680GlyfsTer11
XM_011524756.1:c.2038_2039del XP_011523058.1:p.Trp680GlyfsTer11
XM_011524757.1:c.2038_2039del XP_011523059.1:p.Trp680GlyfsTer11
XM_011524758.1:c.2038_2039del XP_011523060.1:p.Trp680GlyfsTer11
NM_001352773.1:c.2038_2039del NP_001339702.1:p.Trp680GlyfsTer11
NM_001352774.1:c.2038_2039del NP_001339703.1:p.Trp680GlyfsTer11
NM_001352775.1:c.2038_2039del NP_001339704.1:p.Trp680GlyfsTer11
NM_001352776.1:c.2038_2039del NP_001339705.1:p.Trp680GlyfsTer11
NM_001352777.1:c.2038_2039del NP_001339706.1:p.Trp680GlyfsTer11
NM_002230.3:c.2038_2039del NP_002221.1:p.Trp680GlyfsTer11
NM_021991.3:c.2038_2039del NP_068831.1:p.Trp680GlyfsTer11
XM_006721874.3:c.2038_2039del XP_006721937.1:p.Trp680GlyfsTer11
XM_011524753.2:c.2038_2039del XP_011523055.1:p.Trp680GlyfsTer11
XM_017024588.2:c.2089_2090del XP_016880077.1:p.Trp697GlyfsTer11
XM_017024590.1:c.2038_2039del XP_016880079.1:p.Trp680GlyfsTer11
NM_002230.4:c.2038_2039del MANE Select NP_002221.1:p.Trp680GlyfsTer11
NM_001352773.2:c.2038_2039del NP_001339702.1:p.Trp680GlyfsTer11
NM_001352774.2:c.2038_2039del NP_001339703.1:p.Trp680GlyfsTer11
NM_001352775.2:c.2038_2039del NP_001339704.1:p.Trp680GlyfsTer11
NM_001352776.2:c.2038_2039del NP_001339705.1:p.Trp680GlyfsTer11
NM_001352777.2:c.2038_2039del NP_001339706.1:p.Trp680GlyfsTer11
NM_021991.4:c.2038_2039del NP_068831.1:p.Trp680GlyfsTer11
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