Canonical Allele Identifier: CA772059705
Gene: JUP HGNC NCBI

Linked Data

dbSNP Id: rs1223825208
MyVariant Identifiers: chr17:g.41755413del (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41755413del , CM000679.2:g.41755413del GRCh38
NC_000017.10:g.39911665del , CM000679.1:g.39911665del GRCh37
NC_000017.9:g.37165191del NCBI36
NG_009090.2:g.36300del , LRG_401:g.36300del

Transcript Alleles

HGVS Amino-acid Change
ENST00000393931.8:c.*331del MANE Select ENSP00000377508.3:n.*331del
ENST00000310706.9:c.*34del ENSP00000311113.5:n.*34del
ENST00000393930.5:c.*34del ENSP00000377507.1:n.*34del
ENST00000393931.7:c.*331del ENSP00000377508.3:n.*331del
NM_002230.2:c.*331del , LRG_401t2:c.*331del NP_002221.1:n.*331del
NM_021991.2:c.*34del , LRG_401t1:c.*34del NP_068831.1:n.*34del
XM_006721873.1:c.*34del XP_006721936.1:n.*34del
XM_006721874.1:c.*34del XP_006721937.1:n.*34del
XM_006721875.1:c.*34del XP_006721938.1:n.*34del
XM_006721878.1:c.*34del XP_006721941.1:n.*34del
XM_011524753.1:c.*34del XP_011523055.1:n.*34del
XM_011524754.1:c.*34del XP_011523056.1:n.*34del
XM_011524755.1:c.*34del XP_011523057.1:n.*34del
XM_011524756.1:c.*34del XP_011523058.1:n.*34del
XM_011524757.1:c.*34del XP_011523059.1:n.*34del
XM_011524758.1:c.*34del XP_011523060.1:n.*34del
NM_001352773.1:c.*331del NP_001339702.1:n.*331del
NM_001352774.1:c.*34del NP_001339703.1:n.*34del
NM_001352775.1:c.*34del NP_001339704.1:n.*34del
NM_001352776.1:c.*34del NP_001339705.1:n.*34del
NM_001352777.1:c.*34del NP_001339706.1:n.*34del
NM_002230.3:c.*331del NP_002221.1:n.*331del
NM_021991.3:c.*34del NP_068831.1:n.*34del
XM_006721874.3:c.*34del XP_006721937.1:n.*34del
XM_011524753.2:c.*34del XP_011523055.1:n.*34del
XM_017024588.2:c.*34del XP_016880077.1:n.*34del
XM_017024590.1:c.*34del XP_016880079.1:n.*34del
NM_002230.4:c.*331del MANE Select NP_002221.1:n.*331del
NM_001352773.2:c.*331del NP_001339702.1:n.*331del
NM_001352774.2:c.*34del NP_001339703.1:n.*34del
NM_001352775.2:c.*34del NP_001339704.1:n.*34del
NM_001352776.2:c.*34del NP_001339705.1:n.*34del
NM_001352777.2:c.*34del NP_001339706.1:n.*34del
NM_021991.4:c.*34del NP_068831.1:n.*34del