Canonical Allele Identifier: CA916081886

Gene: JUP

Linked Data

• ClinVar Variation Id: 835563
• ClinVar RCV Id: RCV001036471
• dbSNP Id: rs1916704473

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41771850_41771855del , CM000679.2:g.41771850_41771855del	GRCh38
NC_000017.10:g.39928102_39928107del , CM000679.1:g.39928102_39928107del	GRCh37
NC_000017.9:g.37181628_37181633del	NCBI36
NG_009090.2:g.19859_19864del , LRG_401:g.19859_19864del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393931.8:c.1_6del MANE Select	ENSP00000377508.3:p.Met1_Glu2del
ENST00000310706.9:c.1_6del	ENSP00000311113.5:p.Met1_Glu2del
ENST00000393930.5:c.1_6del	ENSP00000377507.1:p.Met1_Glu2del
ENST00000393931.7:c.1_6del	ENSP00000377508.3:p.Met1_Glu2del
ENST00000420370.5:c.1_6del	ENSP00000411449.1:p.Met1_Glu2del
ENST00000424457.5:c.1_6del	ENSP00000401034.1:p.Met1_Glu2del
ENST00000437187.5:c.1_6del	ENSP00000394146.1:p.Met1_Glu2del
ENST00000437369.5:c.1_6del	ENSP00000409948.1:p.Met1_Glu2del
ENST00000449889.5:c.1_6del	ENSP00000389886.1:p.Met1_Glu2del
ENST00000465293.1:c.1_6del	ENSP00000467065.1:p.Met1_Glu2del
ENST00000589036.1:n.129_134del
ENST00000591690.5:c.1_6del	ENSP00000468347.1:p.Met1_Glu2del
NM_002230.2:c.1_6del , LRG_401t2:c.1_6del	NP_002221.1:p.Met1_Glu2del
NM_021991.2:c.1_6del , LRG_401t1:c.1_6del	NP_068831.1:p.Met1_Glu2del
XM_006721873.1:c.1_6del	XP_006721936.1:p.Met1_Glu2del
XM_006721874.1:c.1_6del	XP_006721937.1:p.Met1_Glu2del
XM_006721875.1:c.1_6del	XP_006721938.1:p.Met1_Glu2del
XM_006721878.1:c.1_6del	XP_006721941.1:p.Met1_Glu2del
XM_011524753.1:c.1_6del	XP_011523055.1:p.Met1_Glu2del
XM_011524754.1:c.1_6del	XP_011523056.1:p.Met1_Glu2del
XM_011524755.1:c.1_6del	XP_011523057.1:p.Met1_Glu2del
XM_011524756.1:c.1_6del	XP_011523058.1:p.Met1_Glu2del
XM_011524757.1:c.1_6del	XP_011523059.1:p.Met1_Glu2del
XM_011524758.1:c.1_6del	XP_011523060.1:p.Met1_Glu2del
NM_001352773.1:c.1_6del	NP_001339702.1:p.Met1_Glu2del
NM_001352774.1:c.1_6del	NP_001339703.1:p.Met1_Glu2del
NM_001352775.1:c.1_6del	NP_001339704.1:p.Met1_Glu2del
NM_001352776.1:c.1_6del	NP_001339705.1:p.Met1_Glu2del
NM_001352777.1:c.1_6del	NP_001339706.1:p.Met1_Glu2del
NM_002230.3:c.1_6del	NP_002221.1:p.Met1_Glu2del
NM_021991.3:c.1_6del	NP_068831.1:p.Met1_Glu2del
XM_006721874.3:c.1_6del	XP_006721937.1:p.Met1_Glu2del
XM_011524753.2:c.1_6del	XP_011523055.1:p.Met1_Glu2del
XM_017024588.2:c.52_57del	XP_016880077.1:p.Met18_Glu19del
XM_017024590.1:c.1_6del	XP_016880079.1:p.Met1_Glu2del
NM_002230.4:c.1_6del MANE Select	NP_002221.1:p.Met1_Glu2del
NM_001352773.2:c.1_6del	NP_001339702.1:p.Met1_Glu2del
NM_001352774.2:c.1_6del	NP_001339703.1:p.Met1_Glu2del
NM_001352775.2:c.1_6del	NP_001339704.1:p.Met1_Glu2del
NM_001352776.2:c.1_6del	NP_001339705.1:p.Met1_Glu2del
NM_001352777.2:c.1_6del	NP_001339706.1:p.Met1_Glu2del
NM_021991.4:c.1_6del	NP_068831.1:p.Met1_Glu2del