Canonical Allele Identifier: CA2637858004

Gene: JUP

Linked Data

• gnomAD v4: 17-41755892-ATGTCTGGGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41755893_41755901del , CM000679.2:g.41755893_41755901del	GRCh38
NC_000017.10:g.39912145_39912153del , CM000679.1:g.39912145_39912153del	GRCh37
NC_000017.9:g.37165671_37165679del	NCBI36
NG_009090.2:g.35812_35820del , LRG_401:g.35812_35820del

Transcript Alleles

HGVS	Amino-acid change
ENST00000393931.8:c.2087-6_2089del
ENST00000310706.9:c.2087-6_2089del
ENST00000393930.5:c.2087-6_2089del
ENST00000393931.7:c.2087-6_2089del
NM_002230.2:c.2087-6_2089del , LRG_401t2:c.2087-6_2089del
NM_021991.2:c.2087-6_2089del , LRG_401t1:c.2087-6_2089del
XM_006721873.1:c.2087-6_2089del
XM_006721874.1:c.2087-6_2089del
XM_006721875.1:c.2087-6_2089del
XM_006721878.1:c.2087-6_2089del
XM_011524753.1:c.2087-6_2089del
XM_011524754.1:c.2087-6_2089del
XM_011524755.1:c.2087-6_2089del
XM_011524756.1:c.2087-6_2089del
XM_011524757.1:c.2087-6_2089del
XM_011524758.1:c.2087-6_2089del
NM_001352773.1:c.2087-6_2089del
NM_001352774.1:c.2087-6_2089del
NM_001352775.1:c.2087-6_2089del
NM_001352776.1:c.2087-6_2089del
NM_001352777.1:c.2087-6_2089del
NM_002230.3:c.2087-6_2089del
NM_021991.3:c.2087-6_2089del
XM_006721874.3:c.2087-6_2089del
XM_011524753.2:c.2087-6_2089del
XM_017024588.2:c.2138-6_2140del
XM_017024590.1:c.2087-6_2089del
NM_002230.4:c.2087-6_2089del
NM_001352773.2:c.2087-6_2089del
NM_001352774.2:c.2087-6_2089del
NM_001352775.2:c.2087-6_2089del
NM_001352776.2:c.2087-6_2089del
NM_001352777.2:c.2087-6_2089del
NM_021991.4:c.2087-6_2089del