Canonical Allele Identifier: CA983768585

Gene: JUP

Linked Data

• dbSNP Id: rs1916727208
• gnomAD v3: 17-41771954-CATCAT-C
• gnomAD v4: 17-41771954-CATCAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41771955_41771959del , CM000679.2:g.41771955_41771959del	GRCh38
NC_000017.10:g.39928207_39928211del , CM000679.1:g.39928207_39928211del	GRCh37
NC_000017.9:g.37181733_37181737del	NCBI36
NG_009090.2:g.19754_19758del , LRG_401:g.19754_19758del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393931.8:c.-8-97_-8-93del MANE Select	ENSP00000377508.3:n.-8-97_-8-93del
ENST00000310706.9:c.-8-97_-8-93del	ENSP00000311113.5:n.-8-97_-8-93del
ENST00000393930.5:c.-8-97_-8-93del	ENSP00000377507.1:n.-8-97_-8-93del
ENST00000393931.7:c.-8-97_-8-93del	ENSP00000377508.3:n.-8-97_-8-93del
ENST00000420370.5:c.-8-97_-8-93del	ENSP00000411449.1:n.-8-97_-8-93del
ENST00000424457.5:c.-8-97_-8-93del	ENSP00000401034.1:n.-8-97_-8-93del
ENST00000437187.5:c.-8-97_-8-93del	ENSP00000394146.1:n.-8-97_-8-93del
ENST00000437369.5:c.-8-97_-8-93del	ENSP00000409948.1:n.-8-97_-8-93del
ENST00000449889.5:c.-8-97_-8-93del	ENSP00000389886.1:n.-8-97_-8-93del
ENST00000465293.1:c.-8-97_-8-93del	ENSP00000467065.1:n.-8-97_-8-93del
ENST00000589036.1:n.124-100_124-96del
ENST00000591690.5:c.-8-97_-8-93del	ENSP00000468347.1:n.-8-97_-8-93del
NM_002230.2:c.-8-97_-8-93del , LRG_401t2:c.-8-97_-8-93del	NP_002221.1:n.-8-97_-8-93del
NM_021991.2:c.-8-97_-8-93del , LRG_401t1:c.-8-97_-8-93del	NP_068831.1:n.-8-97_-8-93del
XM_006721873.1:c.-8-97_-8-93del	XP_006721936.1:n.-8-97_-8-93del
XM_006721874.1:c.-8-97_-8-93del	XP_006721937.1:n.-8-97_-8-93del
XM_006721875.1:c.-8-97_-8-93del	XP_006721938.1:n.-8-97_-8-93del
XM_006721878.1:c.-8-97_-8-93del	XP_006721941.1:n.-8-97_-8-93del
XM_011524753.1:c.-8-97_-8-93del	XP_011523055.1:n.-8-97_-8-93del
XM_011524754.1:c.-8-97_-8-93del	XP_011523056.1:n.-8-97_-8-93del
XM_011524755.1:c.-5-100_-5-96del	XP_011523057.1:n.-5-100_-5-96del
XM_011524756.1:c.-5-100_-5-96del	XP_011523058.1:n.-5-100_-5-96del
XM_011524757.1:c.-5-100_-5-96del	XP_011523059.1:n.-5-100_-5-96del
XM_011524758.1:c.-5-100_-5-96del	XP_011523060.1:n.-5-100_-5-96del
NM_001352773.1:c.-8-97_-8-93del	NP_001339702.1:n.-8-97_-8-93del
NM_001352774.1:c.-5-100_-5-96del	NP_001339703.1:n.-5-100_-5-96del
NM_001352775.1:c.-5-100_-5-96del	NP_001339704.1:n.-5-100_-5-96del
NM_001352776.1:c.-8-97_-8-93del	NP_001339705.1:n.-8-97_-8-93del
NM_001352777.1:c.-8-97_-8-93del	NP_001339706.1:n.-8-97_-8-93del
NM_002230.3:c.-8-97_-8-93del	NP_002221.1:n.-8-97_-8-93del
NM_021991.3:c.-8-97_-8-93del	NP_068831.1:n.-8-97_-8-93del
XM_006721874.3:c.-8-97_-8-93del	XP_006721937.1:n.-8-97_-8-93del
XM_011524753.2:c.-8-97_-8-93del	XP_011523055.1:n.-8-97_-8-93del
XM_017024588.2:c.44-97_44-93del	XP_016880077.1:n.44-97_44-93del
XM_017024590.1:c.-5-100_-5-96del	XP_016880079.1:n.-5-100_-5-96del
NM_002230.4:c.-8-97_-8-93del MANE Select	NP_002221.1:n.-8-97_-8-93del
NM_001352773.2:c.-8-97_-8-93del	NP_001339702.1:n.-8-97_-8-93del
NM_001352774.2:c.-5-100_-5-96del	NP_001339703.1:n.-5-100_-5-96del
NM_001352775.2:c.-5-100_-5-96del	NP_001339704.1:n.-5-100_-5-96del
NM_001352776.2:c.-8-97_-8-93del	NP_001339705.1:n.-8-97_-8-93del
NM_001352777.2:c.-8-97_-8-93del	NP_001339706.1:n.-8-97_-8-93del
NM_021991.4:c.-8-97_-8-93del	NP_068831.1:n.-8-97_-8-93del