Canonical Allele Identifier: CA251337

Gene: SETD5

Linked Data

• ClinVar Variation Id: 127105
• ClinVar RCV Id: RCV000114963
• dbSNP Id: rs587777328
• MyVariant Identifiers: chr3:g.9517217dupG (hg19) ; chr3:g.9475533dupG (hg38)
• PubMed: PMID:24680889

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9475533dup , CM000665.2:g.9475533dup	GRCh38
NC_000003.11:g.9517217dup , CM000665.1:g.9517217dup	GRCh37
NC_000003.10:g.9492217dup	NCBI36
NG_034132.1:g.82834dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000682236.1:n.2726dup
ENST00000682536.1:c.3867dup	ENSP00000507956.1:p.Ser1290GlufsTer?
ENST00000687014.1:n.4760dup
ENST00000689167.1:n.2151dup
ENST00000691925.1:n.6568dup
ENST00000693430.1:n.6013dup
ENST00000402198.7:c.3771dup MANE Select	ENSP00000385852.2:p.Ser1258GlufsTer?
ENST00000663774.1:c.*3917dup	ENSP00000499452.1:n.*3917dup
ENST00000665872.1:c.*3840dup	ENSP00000499600.1:n.*3840dup
ENST00000666307.1:c.*4145dup	ENSP00000499402.1:n.*4145dup
ENST00000670063.1:c.*3876dup	ENSP00000499725.1:n.*3876dup
ENST00000302463.10:c.3477dup	ENSP00000302028.6:p.Ser1160GlufsTer?
ENST00000399686.6:c.2722+377dup
ENST00000402198.5:c.3771dup	ENSP00000385852.1:p.Ser1258GlufsTer?
ENST00000406341.5:c.3771dup	ENSP00000383939.1:p.Ser1258GlufsTer?
ENST00000407969.5:c.3828dup	ENSP00000384114.1:p.Ser1277GlufsTer?
ENST00000413704.5:c.2807dup
ENST00000459941.1:n.902dup
ENST00000466242.5:n.3112dup
ENST00000466826.1:n.158dup
ENST00000493918.5:n.3935dup
NM_001080517.2:c.3771dup	NP_001073986.1:p.Ser1258GlufsTer?
NM_001292043.1:c.3477dup	NP_001278972.1:p.Ser1160GlufsTer?
XM_005265301.1:c.3828dup	XP_005265358.1:p.Ser1277GlufsTer?
XM_005265303.1:c.3771dup	XP_005265360.1:p.Ser1258GlufsTer?
XM_011533920.1:c.3945dup	XP_011532222.1:p.Ser1316GlufsTer?
XM_011533921.1:c.3945dup	XP_011532223.1:p.Ser1316GlufsTer?
XM_011533922.1:c.3924dup	XP_011532224.1:p.Ser1309GlufsTer?
XM_011533923.1:c.3924dup	XP_011532225.1:p.Ser1309GlufsTer?
XM_011533924.1:c.3924dup	XP_011532226.1:p.Ser1309GlufsTer?
XM_011533925.1:c.3906dup	XP_011532227.1:p.Ser1303GlufsTer?
XM_011533926.1:c.3888dup	XP_011532228.1:p.Ser1297GlufsTer?
XM_011533927.1:c.3888dup	XP_011532229.1:p.Ser1297GlufsTer?
XM_011533928.1:c.3867dup	XP_011532230.1:p.Ser1290GlufsTer?
XM_011533929.1:c.3849dup	XP_011532231.1:p.Ser1284GlufsTer?
XM_011533930.1:c.3810dup	XP_011532232.1:p.Ser1271GlufsTer?
XM_011533931.1:c.3534dup	XP_011532233.1:p.Ser1179GlufsTer?
XM_011533932.1:c.3495dup	XP_011532234.1:p.Ser1166GlufsTer?
XM_011533933.1:c.3495dup	XP_011532235.1:p.Ser1166GlufsTer?
NM_001349451.1:c.3477dup	NP_001336380.1:p.Ser1160GlufsTer?
XM_011533921.2:c.3945dup	XP_011532223.1:p.Ser1316GlufsTer?
XM_017006767.1:c.3945dup	XP_016862256.1:p.Ser1316GlufsTer?
XM_017006768.2:c.3924dup	XP_016862257.1:p.Ser1309GlufsTer?
XM_017006770.1:c.3888dup	XP_016862259.1:p.Ser1297GlufsTer?
XM_017006771.1:c.3885dup	XP_016862260.1:p.Ser1296GlufsTer?
XM_017006772.1:c.3849dup	XP_016862261.1:p.Ser1284GlufsTer?
XM_017006773.1:c.3849dup	XP_016862262.1:p.Ser1284GlufsTer?
XM_017006774.1:c.3828dup	XP_016862263.1:p.Ser1277GlufsTer?
XM_017006775.1:c.3792dup	XP_016862264.1:p.Ser1265GlufsTer?
XM_017006776.1:c.3534dup	XP_016862265.1:p.Ser1179GlufsTer?
XM_017006777.1:c.3534dup	XP_016862266.1:p.Ser1179GlufsTer?
XM_017006778.1:c.3534dup	XP_016862267.1:p.Ser1179GlufsTer?
XM_017006779.1:c.3495dup	XP_016862268.1:p.Ser1166GlufsTer?
XM_017006780.1:c.3495dup	XP_016862269.1:p.Ser1166GlufsTer?
XM_017006783.1:c.3267dup	XP_016862272.1:p.Ser1090GlufsTer?
XM_024453620.1:c.3906dup	XP_024309388.1:p.Ser1303GlufsTer?
XM_024453621.1:c.3582dup	XP_024309389.1:p.Ser1195GlufsTer?
XR_001740195.2:n.8154dup
NM_001080517.3:c.3771dup MANE Select	NP_001073986.1:p.Ser1258GlufsTer?
NM_001292043.2:c.3477dup	NP_001278972.1:p.Ser1160GlufsTer?
NM_001349451.2:c.3477dup	NP_001336380.1:p.Ser1160GlufsTer?