Canonical Allele Identifier: CA983789086

Gene: JUP

Linked Data

• dbSNP Id: rs1916213899
• gnomAD v3: 17-41769332-T-TCCACCCCTACAATGTCCCTCCCCTGAGGACATCTGCTCTCTCCCCTC
• gnomAD v4: 17-41769332-T-TCCACCCCTACAATGTCCCTCCCCTGAGGACATCTGCTCTCTCCCCTC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41769335_41769381dup , CM000679.2:g.41769335_41769381dup	GRCh38
NC_000017.10:g.39925587_39925633dup , CM000679.1:g.39925587_39925633dup	GRCh37
NC_000017.9:g.37179113_37179159dup	NCBI36
NG_009090.2:g.22334_22380dup , LRG_401:g.22334_22380dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000393931.8:c.468+39_468+85dup MANE Select	ENSP00000377508.3:n.468+39_468+85dup
ENST00000310706.9:c.468+39_468+85dup	ENSP00000311113.5:n.468+39_468+85dup
ENST00000393930.5:c.468+39_468+85dup	ENSP00000377507.1:n.468+39_468+85dup
ENST00000393931.7:c.468+39_468+85dup	ENSP00000377508.3:n.468+39_468+85dup
ENST00000420370.5:c.468+39_468+85dup	ENSP00000411449.1:n.468+39_468+85dup
ENST00000424457.5:c.468+39_468+85dup	ENSP00000401034.1:n.468+39_468+85dup
ENST00000437187.5:c.468+39_468+85dup	ENSP00000394146.1:n.468+39_468+85dup
ENST00000449889.5:c.468+39_468+85dup	ENSP00000389886.1:n.468+39_468+85dup
NM_002230.2:c.468+39_468+85dup , LRG_401t2:c.468+39_468+85dup	NP_002221.1:n.468+39_468+85dup
NM_021991.2:c.468+39_468+85dup , LRG_401t1:c.468+39_468+85dup	NP_068831.1:n.468+39_468+85dup
XM_006721873.1:c.468+39_468+85dup	XP_006721936.1:n.468+39_468+85dup
XM_006721874.1:c.468+39_468+85dup	XP_006721937.1:n.468+39_468+85dup
XM_006721875.1:c.468+39_468+85dup	XP_006721938.1:n.468+39_468+85dup
XM_006721878.1:c.468+39_468+85dup	XP_006721941.1:n.468+39_468+85dup
XM_011524753.1:c.468+39_468+85dup	XP_011523055.1:n.468+39_468+85dup
XM_011524754.1:c.468+39_468+85dup	XP_011523056.1:n.468+39_468+85dup
XM_011524755.1:c.468+39_468+85dup	XP_011523057.1:n.468+39_468+85dup
XM_011524756.1:c.468+39_468+85dup	XP_011523058.1:n.468+39_468+85dup
XM_011524757.1:c.468+39_468+85dup	XP_011523059.1:n.468+39_468+85dup
XM_011524758.1:c.468+39_468+85dup	XP_011523060.1:n.468+39_468+85dup
NM_001352773.1:c.468+39_468+85dup	NP_001339702.1:n.468+39_468+85dup
NM_001352774.1:c.468+39_468+85dup	NP_001339703.1:n.468+39_468+85dup
NM_001352775.1:c.468+39_468+85dup	NP_001339704.1:n.468+39_468+85dup
NM_001352776.1:c.468+39_468+85dup	NP_001339705.1:n.468+39_468+85dup
NM_001352777.1:c.468+39_468+85dup	NP_001339706.1:n.468+39_468+85dup
NM_002230.3:c.468+39_468+85dup	NP_002221.1:n.468+39_468+85dup
NM_021991.3:c.468+39_468+85dup	NP_068831.1:n.468+39_468+85dup
XM_006721874.3:c.468+39_468+85dup	XP_006721937.1:n.468+39_468+85dup
XM_011524753.2:c.468+39_468+85dup	XP_011523055.1:n.468+39_468+85dup
XM_017024588.2:c.519+39_519+85dup	XP_016880077.1:n.519+39_519+85dup
XM_017024590.1:c.468+39_468+85dup	XP_016880079.1:n.468+39_468+85dup
NM_002230.4:c.468+39_468+85dup MANE Select	NP_002221.1:n.468+39_468+85dup
NM_001352773.2:c.468+39_468+85dup	NP_001339702.1:n.468+39_468+85dup
NM_001352774.2:c.468+39_468+85dup	NP_001339703.1:n.468+39_468+85dup
NM_001352775.2:c.468+39_468+85dup	NP_001339704.1:n.468+39_468+85dup
NM_001352776.2:c.468+39_468+85dup	NP_001339705.1:n.468+39_468+85dup
NM_001352777.2:c.468+39_468+85dup	NP_001339706.1:n.468+39_468+85dup
NM_021991.4:c.468+39_468+85dup	NP_068831.1:n.468+39_468+85dup