Canonical Allele Identifier: CA2637857939

Gene: JUP

Linked Data

• gnomAD v4: 17-41755719-GGGGGCCGTACT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41755726_41755736del , CM000679.2:g.41755726_41755736del	GRCh38
NC_000017.10:g.39911978_39911988del , CM000679.1:g.39911978_39911988del	GRCh37
NC_000017.9:g.37165504_37165514del	NCBI36
NG_009090.2:g.35983_35993del , LRG_401:g.35983_35993del

Transcript Alleles

HGVS	Amino-acid change
ENST00000393931.8:c.*14_*24del MANE Select	ENSP00000377508.3:n.*14_*24del
ENST00000310706.9:c.*14_*14+10del
ENST00000393930.5:c.*14_*14+10del
ENST00000393931.7:c.*14_*24del	ENSP00000377508.3:n.*14_*24del
NM_002230.2:c.*14_*24del , LRG_401t2:c.*14_*24del	NP_002221.1:n.*14_*24del
NM_021991.2:c.*14_*14+10del , LRG_401t1:c.*14_*14+10del
XM_006721873.1:c.*14_*14+10del
XM_006721874.1:c.*14_*14+10del
XM_006721875.1:c.*14_*14+10del
XM_006721878.1:c.*14_*14+10del
XM_011524753.1:c.*14_*14+10del
XM_011524754.1:c.*14_*14+10del
XM_011524755.1:c.*14_*14+10del
XM_011524756.1:c.*14_*14+10del
XM_011524757.1:c.*14_*14+10del
XM_011524758.1:c.*14_*14+10del
NM_001352773.1:c.*14_*24del	NP_001339702.1:n.*14_*24del
NM_001352774.1:c.*14_*14+10del
NM_001352775.1:c.*14_*14+10del
NM_001352776.1:c.*14_*14+10del
NM_001352777.1:c.*14_*14+10del
NM_002230.3:c.*14_*24del	NP_002221.1:n.*14_*24del
NM_021991.3:c.*14_*14+10del
XM_006721874.3:c.*14_*14+10del
XM_011524753.2:c.*14_*14+10del
XM_017024588.2:c.*14_*14+10del
XM_017024590.1:c.*14_*14+10del
NM_002230.4:c.*14_*24del MANE Select	NP_002221.1:n.*14_*24del
NM_001352773.2:c.*14_*24del	NP_001339702.1:n.*14_*24del
NM_001352774.2:c.*14_*14+10del
NM_001352775.2:c.*14_*14+10del
NM_001352776.2:c.*14_*14+10del
NM_001352777.2:c.*14_*14+10del
NM_021991.4:c.*14_*14+10del