Canonical Allele Identifier: CA8564994

Gene: JUP

Linked Data

• dbSNP Id: rs781967615
• ExAC: 17:39912071 A / ATCCATG
• gnomAD v2: 17-39912071-A-ATCCATG
• gnomAD v3: 17-41755819-A-ATCCATG
• gnomAD v4: 17-41755819-A-ATCCATG
• MyVariant Identifiers: chr17:g.39912071_39912072insTCCATG (hg19) ; chr17:g.41755819_41755820insTCCATG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41755827_41755832dup , CM000679.2:g.41755827_41755832dup	GRCh38
NC_000017.10:g.39912079_39912084dup , CM000679.1:g.39912079_39912084dup	GRCh37
NC_000017.9:g.37165605_37165610dup	NCBI36
NG_009090.2:g.35888_35893dup , LRG_401:g.35888_35893dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000393931.8:c.2157_2162dup MANE Select	ENSP00000377508.3:p.Asp721_Gly722insMetAs...
ENST00000310706.9:c.2157_2162dup	ENSP00000311113.5:p.Asp721_Gly722insMetAs...
ENST00000393930.5:c.2157_2162dup	ENSP00000377507.1:p.Asp721_Gly722insMetAs...
ENST00000393931.7:c.2157_2162dup	ENSP00000377508.3:p.Asp721_Gly722insMetAs...
NM_002230.2:c.2157_2162dup , LRG_401t2:c.2157_2162dup	NP_002221.1:p.Asp721_Gly722insMetAsp
NM_021991.2:c.2157_2162dup , LRG_401t1:c.2157_2162dup	NP_068831.1:p.Asp721_Gly722insMetAsp
XM_006721873.1:c.2157_2162dup	XP_006721936.1:p.Asp721_Gly722insMetAsp
XM_006721874.1:c.2157_2162dup	XP_006721937.1:p.Asp721_Gly722insMetAsp
XM_006721875.1:c.2157_2162dup	XP_006721938.1:p.Asp721_Gly722insMetAsp
XM_006721878.1:c.2157_2162dup	XP_006721941.1:p.Asp721_Gly722insMetAsp
XM_011524753.1:c.2157_2162dup	XP_011523055.1:p.Asp721_Gly722insMetAsp
XM_011524754.1:c.2157_2162dup	XP_011523056.1:p.Asp721_Gly722insMetAsp
XM_011524755.1:c.2157_2162dup	XP_011523057.1:p.Asp721_Gly722insMetAsp
XM_011524756.1:c.2157_2162dup	XP_011523058.1:p.Asp721_Gly722insMetAsp
XM_011524757.1:c.2157_2162dup	XP_011523059.1:p.Asp721_Gly722insMetAsp
XM_011524758.1:c.2157_2162dup	XP_011523060.1:p.Asp721_Gly722insMetAsp
NM_001352773.1:c.2157_2162dup	NP_001339702.1:p.Asp721_Gly722insMetAsp
NM_001352774.1:c.2157_2162dup	NP_001339703.1:p.Asp721_Gly722insMetAsp
NM_001352775.1:c.2157_2162dup	NP_001339704.1:p.Asp721_Gly722insMetAsp
NM_001352776.1:c.2157_2162dup	NP_001339705.1:p.Asp721_Gly722insMetAsp
NM_001352777.1:c.2157_2162dup	NP_001339706.1:p.Asp721_Gly722insMetAsp
NM_002230.3:c.2157_2162dup	NP_002221.1:p.Asp721_Gly722insMetAsp
NM_021991.3:c.2157_2162dup	NP_068831.1:p.Asp721_Gly722insMetAsp
XM_006721874.3:c.2157_2162dup	XP_006721937.1:p.Asp721_Gly722insMetAsp
XM_011524753.2:c.2157_2162dup	XP_011523055.1:p.Asp721_Gly722insMetAsp
XM_017024588.2:c.2208_2213dup	XP_016880077.1:p.Asp738_Gly739insMetAsp
XM_017024590.1:c.2157_2162dup	XP_016880079.1:p.Asp721_Gly722insMetAsp
NM_002230.4:c.2157_2162dup MANE Select	NP_002221.1:p.Asp721_Gly722insMetAsp
NM_001352773.2:c.2157_2162dup	NP_001339702.1:p.Asp721_Gly722insMetAsp
NM_001352774.2:c.2157_2162dup	NP_001339703.1:p.Asp721_Gly722insMetAsp
NM_001352775.2:c.2157_2162dup	NP_001339704.1:p.Asp721_Gly722insMetAsp
NM_001352776.2:c.2157_2162dup	NP_001339705.1:p.Asp721_Gly722insMetAsp
NM_001352777.2:c.2157_2162dup	NP_001339706.1:p.Asp721_Gly722insMetAsp
NM_021991.4:c.2157_2162dup	NP_068831.1:p.Asp721_Gly722insMetAsp