Canonical Allele Identifier: CA2593969248

Gene: JUP

Linked Data

• gnomAD v3: 17-41755842-G-GCGGGTCAAGGGGCACATCGCTGGAGTACATGGGGCGGTAGGTGGCATCCATGTCTGGGGACAAAAAGTGGGGCTCGGTCCT
• gnomAD v4: 17-41755842-G-GCGGGTCAAGGGGCACATCGCTGGAGTACATGGGGCGGTAGGTGGCATCCATGTCTGGGGACAAAAAGTGGGGCTCGGTCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41755843_41755923dup , CM000679.2:g.41755843_41755923dup	GRCh38
NC_000017.10:g.39912095_39912175dup , CM000679.1:g.39912095_39912175dup	GRCh37
NC_000017.9:g.37165621_37165701dup	NCBI36
NG_009090.2:g.35790_35870dup , LRG_401:g.35790_35870dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000393931.8:c.2087-28_2139dup
ENST00000310706.9:c.2087-28_2139dup
ENST00000393930.5:c.2087-28_2139dup
ENST00000393931.7:c.2087-28_2139dup
NM_002230.2:c.2087-28_2139dup , LRG_401t2:c.2087-28_2139dup
NM_021991.2:c.2087-28_2139dup , LRG_401t1:c.2087-28_2139dup
XM_006721873.1:c.2087-28_2139dup
XM_006721874.1:c.2087-28_2139dup
XM_006721875.1:c.2087-28_2139dup
XM_006721878.1:c.2087-28_2139dup
XM_011524753.1:c.2087-28_2139dup
XM_011524754.1:c.2087-28_2139dup
XM_011524755.1:c.2087-28_2139dup
XM_011524756.1:c.2087-28_2139dup
XM_011524757.1:c.2087-28_2139dup
XM_011524758.1:c.2087-28_2139dup
NM_001352773.1:c.2087-28_2139dup
NM_001352774.1:c.2087-28_2139dup
NM_001352775.1:c.2087-28_2139dup
NM_001352776.1:c.2087-28_2139dup
NM_001352777.1:c.2087-28_2139dup
NM_002230.3:c.2087-28_2139dup
NM_021991.3:c.2087-28_2139dup
XM_006721874.3:c.2087-28_2139dup
XM_011524753.2:c.2087-28_2139dup
XM_017024588.2:c.2138-28_2190dup
XM_017024590.1:c.2087-28_2139dup
NM_002230.4:c.2087-28_2139dup
NM_001352773.2:c.2087-28_2139dup
NM_001352774.2:c.2087-28_2139dup
NM_001352775.2:c.2087-28_2139dup
NM_001352776.2:c.2087-28_2139dup
NM_001352777.2:c.2087-28_2139dup
NM_021991.4:c.2087-28_2139dup