Canonical Allele Identifier: CA2809500999

Gene: JUP

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41755473_41755474insCCTAGGGTCTGCAAGCTACCCTGCAG , CM000679.2:g.41755473_41755474insCCTAGGGTCTGCAAGCTACCCTGCAG	GRCh38
NC_000017.10:g.39911725_39911726insCCTAGGGTCTGCAAGCTACCCTGCAG , CM000679.1:g.39911725_39911726insCCTAGGGTCTGCAAGCTACCCTGCAG	GRCh37
NC_000017.9:g.37165251_37165252insCCTAGGGTCTGCAAGCTACCCTGCAG	NCBI36
NG_009090.2:g.36239_36240insCTGCAGGGTAGCTTGCAGACCCTAGG , LRG_401:g.36239_36240insCTGCAGGGTAGCTTGCAGACCCTAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393931.8:c.*270_*271insCTGCAGGGTAGCTTGCAGACCCTAGG MANE Select	ENSP00000377508.3:n.*270_*271insCTGCAGGGTAGCTTGCAGACCCTAGG
ENST00000310706.9:c.*15-42_*15-41insCTGCAGGGTAGCTTGCAGACCCTAGG	ENSP00000311113.5:n.*15-42_*15-41insCTGCAGGGTAGCTTGCAGACCCTAG...
ENST00000393930.5:c.*15-42_*15-41insCTGCAGGGTAGCTTGCAGACCCTAGG	ENSP00000377507.1:n.*15-42_*15-41insCTGCAGGGTAGCTTGCAGACCCTAG...
ENST00000393931.7:c.*270_*271insCTGCAGGGTAGCTTGCAGACCCTAGG	ENSP00000377508.3:n.*270_*271insCTGCAGGGTAGCTTGCAGACCCTAGG
NM_002230.2:c.*270_*271insCTGCAGGGTAGCTTGCAGACCCTAGG , LRG_401t2:c.*270_*271insCTGCAGGGTAGCTTGCAGACCCTAGG	NP_002221.1:n.*270_*271insCTGCAGGGTAGCTTGCAGACCCTAGG
NM_021991.2:c.*15-42_*15-41insCTGCAGGGTAGCTTGCAGACCCTAGG , LRG_401t1:c.*15-42_*15-41insCTGCAGGGTAGCTTGCAGACCCTAGG	NP_068831.1:n.*15-42_*15-41insCTGCAGGGTAGCTTGCAGACCCTAGG
XM_006721873.1:c.*15-42_*15-41insCTGCAGGGTAGCTTGCAGACCCTAGG	XP_006721936.1:n.*15-42_*15-41insCTGCAGGGTAGCTTGCAGACCCTAGG
XM_006721874.1:c.*15-42_*15-41insCTGCAGGGTAGCTTGCAGACCCTAGG	XP_006721937.1:n.*15-42_*15-41insCTGCAGGGTAGCTTGCAGACCCTAGG
XM_006721875.1:c.*15-42_*15-41insCTGCAGGGTAGCTTGCAGACCCTAGG	XP_006721938.1:n.*15-42_*15-41insCTGCAGGGTAGCTTGCAGACCCTAGG
XM_006721878.1:c.*15-42_*15-41insCTGCAGGGTAGCTTGCAGACCCTAGG	XP_006721941.1:n.*15-42_*15-41insCTGCAGGGTAGCTTGCAGACCCTAGG
XM_011524753.1:c.*15-42_*15-41insCTGCAGGGTAGCTTGCAGACCCTAGG	XP_011523055.1:n.*15-42_*15-41insCTGCAGGGTAGCTTGCAGACCCTAGG
XM_011524754.1:c.*15-42_*15-41insCTGCAGGGTAGCTTGCAGACCCTAGG	XP_011523056.1:n.*15-42_*15-41insCTGCAGGGTAGCTTGCAGACCCTAGG
XM_011524755.1:c.*15-42_*15-41insCTGCAGGGTAGCTTGCAGACCCTAGG	XP_011523057.1:n.*15-42_*15-41insCTGCAGGGTAGCTTGCAGACCCTAGG
XM_011524756.1:c.*15-42_*15-41insCTGCAGGGTAGCTTGCAGACCCTAGG	XP_011523058.1:n.*15-42_*15-41insCTGCAGGGTAGCTTGCAGACCCTAGG
XM_011524757.1:c.*15-42_*15-41insCTGCAGGGTAGCTTGCAGACCCTAGG	XP_011523059.1:n.*15-42_*15-41insCTGCAGGGTAGCTTGCAGACCCTAGG
XM_011524758.1:c.*15-42_*15-41insCTGCAGGGTAGCTTGCAGACCCTAGG	XP_011523060.1:n.*15-42_*15-41insCTGCAGGGTAGCTTGCAGACCCTAGG
NM_001352773.1:c.*270_*271insCTGCAGGGTAGCTTGCAGACCCTAGG	NP_001339702.1:n.*270_*271insCTGCAGGGTAGCTTGCAGACCCTAGG
NM_001352774.1:c.*15-42_*15-41insCTGCAGGGTAGCTTGCAGACCCTAGG	NP_001339703.1:n.*15-42_*15-41insCTGCAGGGTAGCTTGCAGACCCTAGG
NM_001352775.1:c.*15-42_*15-41insCTGCAGGGTAGCTTGCAGACCCTAGG	NP_001339704.1:n.*15-42_*15-41insCTGCAGGGTAGCTTGCAGACCCTAGG
NM_001352776.1:c.*15-42_*15-41insCTGCAGGGTAGCTTGCAGACCCTAGG	NP_001339705.1:n.*15-42_*15-41insCTGCAGGGTAGCTTGCAGACCCTAGG
NM_001352777.1:c.*15-42_*15-41insCTGCAGGGTAGCTTGCAGACCCTAGG	NP_001339706.1:n.*15-42_*15-41insCTGCAGGGTAGCTTGCAGACCCTAGG
NM_002230.3:c.*270_*271insCTGCAGGGTAGCTTGCAGACCCTAGG	NP_002221.1:n.*270_*271insCTGCAGGGTAGCTTGCAGACCCTAGG
NM_021991.3:c.*15-42_*15-41insCTGCAGGGTAGCTTGCAGACCCTAGG	NP_068831.1:n.*15-42_*15-41insCTGCAGGGTAGCTTGCAGACCCTAGG
XM_006721874.3:c.*15-42_*15-41insCTGCAGGGTAGCTTGCAGACCCTAGG	XP_006721937.1:n.*15-42_*15-41insCTGCAGGGTAGCTTGCAGACCCTAGG
XM_011524753.2:c.*15-42_*15-41insCTGCAGGGTAGCTTGCAGACCCTAGG	XP_011523055.1:n.*15-42_*15-41insCTGCAGGGTAGCTTGCAGACCCTAGG
XM_017024588.2:c.*15-42_*15-41insCTGCAGGGTAGCTTGCAGACCCTAGG	XP_016880077.1:n.*15-42_*15-41insCTGCAGGGTAGCTTGCAGACCCTAGG
XM_017024590.1:c.*15-42_*15-41insCTGCAGGGTAGCTTGCAGACCCTAGG	XP_016880079.1:n.*15-42_*15-41insCTGCAGGGTAGCTTGCAGACCCTAGG
NM_002230.4:c.*270_*271insCTGCAGGGTAGCTTGCAGACCCTAGG MANE Select	NP_002221.1:n.*270_*271insCTGCAGGGTAGCTTGCAGACCCTAGG
NM_001352773.2:c.*270_*271insCTGCAGGGTAGCTTGCAGACCCTAGG	NP_001339702.1:n.*270_*271insCTGCAGGGTAGCTTGCAGACCCTAGG
NM_001352774.2:c.*15-42_*15-41insCTGCAGGGTAGCTTGCAGACCCTAGG	NP_001339703.1:n.*15-42_*15-41insCTGCAGGGTAGCTTGCAGACCCTAGG
NM_001352775.2:c.*15-42_*15-41insCTGCAGGGTAGCTTGCAGACCCTAGG	NP_001339704.1:n.*15-42_*15-41insCTGCAGGGTAGCTTGCAGACCCTAGG
NM_001352776.2:c.*15-42_*15-41insCTGCAGGGTAGCTTGCAGACCCTAGG	NP_001339705.1:n.*15-42_*15-41insCTGCAGGGTAGCTTGCAGACCCTAGG
NM_001352777.2:c.*15-42_*15-41insCTGCAGGGTAGCTTGCAGACCCTAGG	NP_001339706.1:n.*15-42_*15-41insCTGCAGGGTAGCTTGCAGACCCTAGG
NM_021991.4:c.*15-42_*15-41insCTGCAGGGTAGCTTGCAGACCCTAGG	NP_068831.1:n.*15-42_*15-41insCTGCAGGGTAGCTTGCAGACCCTAGG