Canonical Allele Identifier: CA645526497
Gene: SETD5 HGNC NCBI

Linked Data

ClinVar Variation Id: 450756
dbSNP Id: rs1553641476

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.9475617dup , CM000665.2:g.9475617dup GRCh38
NC_000003.11:g.9517301dup , CM000665.1:g.9517301dup GRCh37
NC_000003.10:g.9492301dup NCBI36
NG_034132.1:g.82918dup

Transcript Alleles

HGVS Amino-acid change
ENST00000682236.1:n.2810dup
ENST00000682536.1:c.3951dup ENSP00000507956.1:p.Ser1318LeufsTer?
ENST00000687014.1:n.4844dup
ENST00000689167.1:n.2235dup
ENST00000691925.1:n.6652dup
ENST00000693430.1:n.6097dup
ENST00000402198.7:c.3855dup MANE Select ENSP00000385852.2:p.Ser1286LeufsTer?
ENST00000663774.1:c.*4001dup ENSP00000499452.1:n.*4001dup
ENST00000665872.1:c.*3924dup ENSP00000499600.1:n.*3924dup
ENST00000666307.1:c.*4229dup ENSP00000499402.1:n.*4229dup
ENST00000670063.1:c.*3960dup ENSP00000499725.1:n.*3960dup
ENST00000302463.10:c.3561dup ENSP00000302028.6:p.Ser1188LeufsTer?
ENST00000399686.6:c.2722+461dup
ENST00000402198.5:c.3855dup ENSP00000385852.1:p.Ser1286LeufsTer?
ENST00000406341.5:c.3855dup ENSP00000383939.1:p.Ser1286LeufsTer?
ENST00000407969.5:c.3912dup ENSP00000384114.1:p.Ser1305LeufsTer?
ENST00000413704.5:c.2891dup
ENST00000459941.1:n.986dup
ENST00000466242.5:n.3196dup
ENST00000466826.1:n.242dup
ENST00000493918.5:n.4019dup
NM_001080517.2:c.3855dup NP_001073986.1:p.Ser1286LeufsTer?
NM_001292043.1:c.3561dup NP_001278972.1:p.Ser1188LeufsTer?
XM_005265301.1:c.3912dup XP_005265358.1:p.Ser1305LeufsTer?
XM_005265303.1:c.3855dup XP_005265360.1:p.Ser1286LeufsTer?
XM_011533920.1:c.4029dup XP_011532222.1:p.Ser1344LeufsTer?
XM_011533921.1:c.4029dup XP_011532223.1:p.Ser1344LeufsTer?
XM_011533922.1:c.4008dup XP_011532224.1:p.Ser1337LeufsTer?
XM_011533923.1:c.4008dup XP_011532225.1:p.Ser1337LeufsTer?
XM_011533924.1:c.4008dup XP_011532226.1:p.Ser1337LeufsTer?
XM_011533925.1:c.3990dup XP_011532227.1:p.Ser1331LeufsTer?
XM_011533926.1:c.3972dup XP_011532228.1:p.Ser1325LeufsTer?
XM_011533927.1:c.3972dup XP_011532229.1:p.Ser1325LeufsTer?
XM_011533928.1:c.3951dup XP_011532230.1:p.Ser1318LeufsTer?
XM_011533929.1:c.3933dup XP_011532231.1:p.Ser1312LeufsTer?
XM_011533930.1:c.3894dup XP_011532232.1:p.Ser1299LeufsTer?
XM_011533931.1:c.3618dup XP_011532233.1:p.Ser1207LeufsTer?
XM_011533932.1:c.3579dup XP_011532234.1:p.Ser1194LeufsTer?
XM_011533933.1:c.3579dup XP_011532235.1:p.Ser1194LeufsTer?
NM_001349451.1:c.3561dup NP_001336380.1:p.Ser1188LeufsTer?
XM_011533921.2:c.4029dup XP_011532223.1:p.Ser1344LeufsTer?
XM_017006767.1:c.4029dup XP_016862256.1:p.Ser1344LeufsTer?
XM_017006768.2:c.4008dup XP_016862257.1:p.Ser1337LeufsTer?
XM_017006770.1:c.3972dup XP_016862259.1:p.Ser1325LeufsTer?
XM_017006771.1:c.3969dup XP_016862260.1:p.Ser1324LeufsTer?
XM_017006772.1:c.3933dup XP_016862261.1:p.Ser1312LeufsTer?
XM_017006773.1:c.3933dup XP_016862262.1:p.Ser1312LeufsTer?
XM_017006774.1:c.3912dup XP_016862263.1:p.Ser1305LeufsTer?
XM_017006775.1:c.3876dup XP_016862264.1:p.Ser1293LeufsTer?
XM_017006776.1:c.3618dup XP_016862265.1:p.Ser1207LeufsTer?
XM_017006777.1:c.3618dup XP_016862266.1:p.Ser1207LeufsTer?
XM_017006778.1:c.3618dup XP_016862267.1:p.Ser1207LeufsTer?
XM_017006779.1:c.3579dup XP_016862268.1:p.Ser1194LeufsTer?
XM_017006780.1:c.3579dup XP_016862269.1:p.Ser1194LeufsTer?
XM_017006783.1:c.3351dup XP_016862272.1:p.Ser1118LeufsTer?
XM_024453620.1:c.3990dup XP_024309388.1:p.Ser1331LeufsTer?
XM_024453621.1:c.3666dup XP_024309389.1:p.Ser1223LeufsTer?
XR_001740195.2:n.8238dup
NM_001080517.3:c.3855dup MANE Select NP_001073986.1:p.Ser1286LeufsTer?
NM_001292043.2:c.3561dup NP_001278972.1:p.Ser1188LeufsTer?
NM_001349451.2:c.3561dup NP_001336380.1:p.Ser1188LeufsTer?