Canonical Allele Identifier: CA8565592

Gene: JUP

Linked Data

• dbSNP Id: rs781964939
• ExAC: 17:39928051 G / GGCC
• gnomAD v2: 17-39928051-G-GGCC
• MyVariant Identifiers: chr17:g.39928051_39928052insGCC (hg19) ; chr17:g.41771799_41771800insGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41771799_41771800insGCC , CM000679.2:g.41771799_41771800insGCC	GRCh38
NC_000017.10:g.39928051_39928052insGCC , CM000679.1:g.39928051_39928052insGCC	GRCh37
NC_000017.9:g.37181577_37181578insGCC	NCBI36
NG_009090.2:g.19913_19914insGGC , LRG_401:g.19913_19914insGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393931.8:c.55_56insGGC MANE Select	ENSP00000377508.3:p.Thr19delinsArgPro
ENST00000310706.9:c.55_56insGGC	ENSP00000311113.5:p.Thr19delinsArgPro
ENST00000393930.5:c.55_56insGGC	ENSP00000377507.1:p.Thr19delinsArgPro
ENST00000393931.7:c.55_56insGGC	ENSP00000377508.3:p.Thr19delinsArgPro
ENST00000420370.5:c.55_56insGGC	ENSP00000411449.1:p.Thr19delinsArgPro
ENST00000424457.5:c.55_56insGGC	ENSP00000401034.1:p.Thr19delinsArgPro
ENST00000437187.5:c.55_56insGGC	ENSP00000394146.1:p.Thr19delinsArgPro
ENST00000437369.5:c.55_56insGGC	ENSP00000409948.1:p.Thr19delinsArgPro
ENST00000449889.5:c.55_56insGGC	ENSP00000389886.1:p.Thr19delinsArgPro
ENST00000589036.1:n.183_184insGGC
ENST00000591690.5:c.55_56insGGC	ENSP00000468347.1:p.Thr19delinsArgPro
NM_002230.2:c.55_56insGGC , LRG_401t2:c.55_56insGGC	NP_002221.1:p.Thr19delinsArgPro
NM_021991.2:c.55_56insGGC , LRG_401t1:c.55_56insGGC	NP_068831.1:p.Thr19delinsArgPro
XM_006721873.1:c.55_56insGGC	XP_006721936.1:p.Thr19delinsArgPro
XM_006721874.1:c.55_56insGGC	XP_006721937.1:p.Thr19delinsArgPro
XM_006721875.1:c.55_56insGGC	XP_006721938.1:p.Thr19delinsArgPro
XM_006721878.1:c.55_56insGGC	XP_006721941.1:p.Thr19delinsArgPro
XM_011524753.1:c.55_56insGGC	XP_011523055.1:p.Thr19delinsArgPro
XM_011524754.1:c.55_56insGGC	XP_011523056.1:p.Thr19delinsArgPro
XM_011524755.1:c.55_56insGGC	XP_011523057.1:p.Thr19delinsArgPro
XM_011524756.1:c.55_56insGGC	XP_011523058.1:p.Thr19delinsArgPro
XM_011524757.1:c.55_56insGGC	XP_011523059.1:p.Thr19delinsArgPro
XM_011524758.1:c.55_56insGGC	XP_011523060.1:p.Thr19delinsArgPro
NM_001352773.1:c.55_56insGGC	NP_001339702.1:p.Thr19delinsArgPro
NM_001352774.1:c.55_56insGGC	NP_001339703.1:p.Thr19delinsArgPro
NM_001352775.1:c.55_56insGGC	NP_001339704.1:p.Thr19delinsArgPro
NM_001352776.1:c.55_56insGGC	NP_001339705.1:p.Thr19delinsArgPro
NM_001352777.1:c.55_56insGGC	NP_001339706.1:p.Thr19delinsArgPro
NM_002230.3:c.55_56insGGC	NP_002221.1:p.Thr19delinsArgPro
NM_021991.3:c.55_56insGGC	NP_068831.1:p.Thr19delinsArgPro
XM_006721874.3:c.55_56insGGC	XP_006721937.1:p.Thr19delinsArgPro
XM_011524753.2:c.55_56insGGC	XP_011523055.1:p.Thr19delinsArgPro
XM_017024588.2:c.106_107insGGC	XP_016880077.1:p.Thr36delinsArgPro
XM_017024590.1:c.55_56insGGC	XP_016880079.1:p.Thr19delinsArgPro
NM_002230.4:c.55_56insGGC MANE Select	NP_002221.1:p.Thr19delinsArgPro
NM_001352773.2:c.55_56insGGC	NP_001339702.1:p.Thr19delinsArgPro
NM_001352774.2:c.55_56insGGC	NP_001339703.1:p.Thr19delinsArgPro
NM_001352775.2:c.55_56insGGC	NP_001339704.1:p.Thr19delinsArgPro
NM_001352776.2:c.55_56insGGC	NP_001339705.1:p.Thr19delinsArgPro
NM_001352777.2:c.55_56insGGC	NP_001339706.1:p.Thr19delinsArgPro
NM_021991.4:c.55_56insGGC	NP_068831.1:p.Thr19delinsArgPro