Canonical Allele Identifier: CA16618016

Gene: SETD5

Linked Data

• ClinVar Variation Id: 419013
• ClinVar RCV Id: RCV000486147
• dbSNP Id: rs1553641424
• MyVariant Identifiers: chr3:g.9517229dupC (hg19) ; chr3:g.9475545dupC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9475545dup , CM000665.2:g.9475545dup	GRCh38
NC_000003.11:g.9517229dup , CM000665.1:g.9517229dup	GRCh37
NC_000003.10:g.9492229dup	NCBI36
NG_034132.1:g.82846dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682236.1:n.2738dup
ENST00000682536.1:c.3879dup	ENSP00000507956.1:p.Phe1294LeufsTer?
ENST00000687014.1:n.4772dup
ENST00000689167.1:n.2163dup
ENST00000691925.1:n.6580dup
ENST00000693430.1:n.6025dup
ENST00000402198.7:c.3783dup MANE Select	ENSP00000385852.2:p.Phe1262LeufsTer?
ENST00000663774.1:c.*3929dup	ENSP00000499452.1:n.*3929dup
ENST00000665872.1:c.*3852dup	ENSP00000499600.1:n.*3852dup
ENST00000666307.1:c.*4157dup	ENSP00000499402.1:n.*4157dup
ENST00000670063.1:c.*3888dup	ENSP00000499725.1:n.*3888dup
ENST00000302463.10:c.3489dup	ENSP00000302028.6:p.Phe1164LeufsTer?
ENST00000399686.6:c.2722+389dup
ENST00000402198.5:c.3783dup	ENSP00000385852.1:p.Phe1262LeufsTer?
ENST00000406341.5:c.3783dup	ENSP00000383939.1:p.Phe1262LeufsTer?
ENST00000407969.5:c.3840dup	ENSP00000384114.1:p.Phe1281LeufsTer?
ENST00000413704.5:c.2819dup
ENST00000459941.1:n.914dup
ENST00000466242.5:n.3124dup
ENST00000466826.1:n.170dup
ENST00000493918.5:n.3947dup
NM_001080517.2:c.3783dup	NP_001073986.1:p.Phe1262LeufsTer?
NM_001292043.1:c.3489dup	NP_001278972.1:p.Phe1164LeufsTer?
XM_005265301.1:c.3840dup	XP_005265358.1:p.Phe1281LeufsTer?
XM_005265303.1:c.3783dup	XP_005265360.1:p.Phe1262LeufsTer?
XM_011533920.1:c.3957dup	XP_011532222.1:p.Phe1320LeufsTer?
XM_011533921.1:c.3957dup	XP_011532223.1:p.Phe1320LeufsTer?
XM_011533922.1:c.3936dup	XP_011532224.1:p.Phe1313LeufsTer?
XM_011533923.1:c.3936dup	XP_011532225.1:p.Phe1313LeufsTer?
XM_011533924.1:c.3936dup	XP_011532226.1:p.Phe1313LeufsTer?
XM_011533925.1:c.3918dup	XP_011532227.1:p.Phe1307LeufsTer?
XM_011533926.1:c.3900dup	XP_011532228.1:p.Phe1301LeufsTer?
XM_011533927.1:c.3900dup	XP_011532229.1:p.Phe1301LeufsTer?
XM_011533928.1:c.3879dup	XP_011532230.1:p.Phe1294LeufsTer?
XM_011533929.1:c.3861dup	XP_011532231.1:p.Phe1288LeufsTer?
XM_011533930.1:c.3822dup	XP_011532232.1:p.Phe1275LeufsTer?
XM_011533931.1:c.3546dup	XP_011532233.1:p.Phe1183LeufsTer?
XM_011533932.1:c.3507dup	XP_011532234.1:p.Phe1170LeufsTer?
XM_011533933.1:c.3507dup	XP_011532235.1:p.Phe1170LeufsTer?
NM_001349451.1:c.3489dup	NP_001336380.1:p.Phe1164LeufsTer?
XM_011533921.2:c.3957dup	XP_011532223.1:p.Phe1320LeufsTer?
XM_017006767.1:c.3957dup	XP_016862256.1:p.Phe1320LeufsTer?
XM_017006768.2:c.3936dup	XP_016862257.1:p.Phe1313LeufsTer?
XM_017006770.1:c.3900dup	XP_016862259.1:p.Phe1301LeufsTer?
XM_017006771.1:c.3897dup	XP_016862260.1:p.Phe1300LeufsTer?
XM_017006772.1:c.3861dup	XP_016862261.1:p.Phe1288LeufsTer?
XM_017006773.1:c.3861dup	XP_016862262.1:p.Phe1288LeufsTer?
XM_017006774.1:c.3840dup	XP_016862263.1:p.Phe1281LeufsTer?
XM_017006775.1:c.3804dup	XP_016862264.1:p.Phe1269LeufsTer?
XM_017006776.1:c.3546dup	XP_016862265.1:p.Phe1183LeufsTer?
XM_017006777.1:c.3546dup	XP_016862266.1:p.Phe1183LeufsTer?
XM_017006778.1:c.3546dup	XP_016862267.1:p.Phe1183LeufsTer?
XM_017006779.1:c.3507dup	XP_016862268.1:p.Phe1170LeufsTer?
XM_017006780.1:c.3507dup	XP_016862269.1:p.Phe1170LeufsTer?
XM_017006783.1:c.3279dup	XP_016862272.1:p.Phe1094LeufsTer?
XM_024453620.1:c.3918dup	XP_024309388.1:p.Phe1307LeufsTer?
XM_024453621.1:c.3594dup	XP_024309389.1:p.Phe1199LeufsTer?
XR_001740195.2:n.8166dup
NM_001080517.3:c.3783dup MANE Select	NP_001073986.1:p.Phe1262LeufsTer?
NM_001292043.2:c.3489dup	NP_001278972.1:p.Phe1164LeufsTer?
NM_001349451.2:c.3489dup	NP_001336380.1:p.Phe1164LeufsTer?