Canonical Allele Identifier: CA16618012
Gene: SETD5 HGNC NCBI

Linked Data

ClinVar Variation Id: 423395
ClinVar RCV Id: RCV000486292
dbSNP Id: rs1064796399

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.9447896del , CM000665.2:g.9447896del GRCh38
NC_000003.11:g.9489580del , CM000665.1:g.9489580del GRCh37
NC_000003.10:g.9464580del NCBI36
NG_034132.1:g.55197del

Transcript Alleles

HGVS Amino-acid change
ENST00000682236.1:n.448del
ENST00000682536.1:c.2089del ENSP00000507956.1:p.Leu697Ter
ENST00000684055.1:c.1993del ENSP00000507953.1:p.Leu665Ter
ENST00000684606.1:c.*2488del ENSP00000506817.1:n.*2488del
ENST00000688835.1:n.3011del
ENST00000691175.1:n.3068del
ENST00000691925.1:n.3068del
ENST00000691988.1:n.1609del
ENST00000693430.1:n.3424del
ENST00000402198.7:c.1993del MANE Select ENSP00000385852.2:p.Leu665Ter
ENST00000663774.1:c.*2139del ENSP00000499452.1:n.*2139del
ENST00000665872.1:c.*2062del ENSP00000499600.1:n.*2062del
ENST00000666307.1:c.*2367del ENSP00000499402.1:n.*2367del
ENST00000670063.1:c.*2098del ENSP00000499725.1:n.*2098del
ENST00000302463.10:c.1699del ENSP00000302028.6:p.Leu567Ter
ENST00000399686.6:c.995del
ENST00000402198.5:c.1993del ENSP00000385852.1:p.Leu665Ter
ENST00000406341.5:c.1993del ENSP00000383939.1:p.Leu665Ter
ENST00000407969.5:c.2050del ENSP00000384114.1:p.Leu684Ter
ENST00000413704.5:c.1029del
ENST00000443339.5:c.*2253del ENSP00000393221.1:n.*2253del
ENST00000466242.5:n.1334del
ENST00000488236.5:n.210del
ENST00000493918.5:n.2157del
NM_001080517.2:c.1993del NP_001073986.1:p.Leu665Ter
NM_001292043.1:c.1699del NP_001278972.1:p.Leu567Ter
XM_005265301.1:c.2050del XP_005265358.1:p.Leu684Ter
XM_005265303.1:c.1936del XP_005265360.1:p.Leu646Ter
XM_011533920.1:c.2110del XP_011532222.1:p.Leu704Ter
XM_011533921.1:c.2110del XP_011532223.1:p.Leu704Ter
XM_011533922.1:c.2089del XP_011532224.1:p.Leu697Ter
XM_011533923.1:c.2089del XP_011532225.1:p.Leu697Ter
XM_011533924.1:c.2089del XP_011532226.1:p.Leu697Ter
XM_011533925.1:c.2071del XP_011532227.1:p.Leu691Ter
XM_011533926.1:c.2110del XP_011532228.1:p.Leu704Ter
XM_011533927.1:c.2053del XP_011532229.1:p.Leu685Ter
XM_011533928.1:c.2032del XP_011532230.1:p.Leu678Ter
XM_011533929.1:c.2071del XP_011532231.1:p.Leu691Ter
XM_011533930.1:c.1975del XP_011532232.1:p.Leu659Ter
XM_011533931.1:c.1699del XP_011532233.1:p.Leu567Ter
XM_011533932.1:c.1660del XP_011532234.1:p.Leu554Ter
XM_011533933.1:c.1660del XP_011532235.1:p.Leu554Ter
XM_011533934.1:c.2110del XP_011532236.1:p.Leu704Ter
XM_011533935.1:c.2110del XP_011532237.1:p.Leu704Ter
XM_011533936.1:c.2110del XP_011532238.1:p.Leu704Ter
NM_001349451.1:c.1699del NP_001336380.1:p.Leu567Ter
XM_011533921.2:c.2110del XP_011532223.1:p.Leu704Ter
XM_017006767.1:c.2110del XP_016862256.1:p.Leu704Ter
XM_017006768.2:c.2089del XP_016862257.1:p.Leu697Ter
XM_017006770.1:c.2110del XP_016862259.1:p.Leu704Ter
XM_017006771.1:c.2050del XP_016862260.1:p.Leu684Ter
XM_017006772.1:c.2071del XP_016862261.1:p.Leu691Ter
XM_017006773.1:c.2014del XP_016862262.1:p.Leu672Ter
XM_017006774.1:c.1993del XP_016862263.1:p.Leu665Ter
XM_017006775.1:c.2014del XP_016862264.1:p.Leu672Ter
XM_017006776.1:c.1699del XP_016862265.1:p.Leu567Ter
XM_017006777.1:c.1699del XP_016862266.1:p.Leu567Ter
XM_017006778.1:c.1699del XP_016862267.1:p.Leu567Ter
XM_017006779.1:c.1660del XP_016862268.1:p.Leu554Ter
XM_017006780.1:c.1660del XP_016862269.1:p.Leu554Ter
XM_017006782.1:c.2110del XP_016862271.1:p.Leu704Ter
XM_017006783.1:c.1432del XP_016862272.1:p.Leu478Ter
XM_017006784.1:c.2110del XP_016862273.1:p.Leu704Ter
XM_017006785.1:c.2110del XP_016862274.1:p.Leu704Ter
XM_017006786.1:c.2110del XP_016862275.1:p.Leu704Ter
XM_024453620.1:c.2071del XP_024309388.1:p.Leu691Ter
XM_024453621.1:c.1747del XP_024309389.1:p.Leu583Ter
XR_001740195.2:n.6279del
NM_001080517.3:c.1993del MANE Select NP_001073986.1:p.Leu665Ter
NM_001292043.2:c.1699del NP_001278972.1:p.Leu567Ter
NM_001349451.2:c.1699del NP_001336380.1:p.Leu567Ter