Canonical Allele Identifier: CA16618017
Gene: SETD5 HGNC NCBI

Linked Data

ClinVar Variation Id: 422791
ClinVar RCV Id: RCV000481753
dbSNP Id: rs1064796001

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.9475711del , CM000665.2:g.9475711del GRCh38
NC_000003.11:g.9517395del , CM000665.1:g.9517395del GRCh37
NC_000003.10:g.9492395del NCBI36
NG_034132.1:g.83012del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682236.1:n.2904del
ENST00000682536.1:c.4045del ENSP00000507956.1:p.Thr1349HisfsTer?
ENST00000687014.1:n.4938del
ENST00000689167.1:n.2329del
ENST00000693430.1:n.6191del
ENST00000402198.7:c.3949del MANE Select ENSP00000385852.2:p.Thr1317HisfsTer?
ENST00000663774.1:c.*4095del ENSP00000499452.1:n.*4095del
ENST00000665872.1:c.*4018del ENSP00000499600.1:n.*4018del
ENST00000666307.1:c.*4323del ENSP00000499402.1:n.*4323del
ENST00000670063.1:c.*4054del ENSP00000499725.1:n.*4054del
ENST00000302463.10:c.3655del ENSP00000302028.6:p.Thr1219HisfsTer?
ENST00000399686.6:c.2722+555del
ENST00000402198.5:c.3949del ENSP00000385852.1:p.Thr1317HisfsTer?
ENST00000406341.5:c.3949del ENSP00000383939.1:p.Thr1317HisfsTer?
ENST00000407969.5:c.4006del ENSP00000384114.1:p.Thr1336HisfsTer?
ENST00000413704.5:c.2985del
ENST00000466242.5:n.3290del
ENST00000493918.5:n.4113del
NM_001080517.2:c.3949del NP_001073986.1:p.Thr1317HisfsTer?
NM_001292043.1:c.3655del NP_001278972.1:p.Thr1219HisfsTer?
XM_005265301.1:c.4006del XP_005265358.1:p.Thr1336HisfsTer?
XM_005265303.1:c.3949del XP_005265360.1:p.Thr1317HisfsTer?
XM_011533920.1:c.4123del XP_011532222.1:p.Thr1375HisfsTer?
XM_011533921.1:c.4123del XP_011532223.1:p.Thr1375HisfsTer?
XM_011533922.1:c.4102del XP_011532224.1:p.Thr1368HisfsTer?
XM_011533923.1:c.4102del XP_011532225.1:p.Thr1368HisfsTer?
XM_011533924.1:c.4102del XP_011532226.1:p.Thr1368HisfsTer?
XM_011533925.1:c.4084del XP_011532227.1:p.Thr1362HisfsTer?
XM_011533926.1:c.4066del XP_011532228.1:p.Thr1356HisfsTer?
XM_011533927.1:c.4066del XP_011532229.1:p.Thr1356HisfsTer?
XM_011533928.1:c.4045del XP_011532230.1:p.Thr1349HisfsTer?
XM_011533929.1:c.4027del XP_011532231.1:p.Thr1343HisfsTer?
XM_011533930.1:c.3988del XP_011532232.1:p.Thr1330HisfsTer?
XM_011533931.1:c.3712del XP_011532233.1:p.Thr1238HisfsTer?
XM_011533932.1:c.3673del XP_011532234.1:p.Thr1225HisfsTer?
XM_011533933.1:c.3673del XP_011532235.1:p.Thr1225HisfsTer?
NM_001349451.1:c.3655del NP_001336380.1:p.Thr1219HisfsTer?
XM_011533921.2:c.4123del XP_011532223.1:p.Thr1375HisfsTer?
XM_017006767.1:c.4123del XP_016862256.1:p.Thr1375HisfsTer?
XM_017006768.2:c.4102del XP_016862257.1:p.Thr1368HisfsTer?
XM_017006770.1:c.4066del XP_016862259.1:p.Thr1356HisfsTer?
XM_017006771.1:c.4063del XP_016862260.1:p.Thr1355HisfsTer?
XM_017006772.1:c.4027del XP_016862261.1:p.Thr1343HisfsTer?
XM_017006773.1:c.4027del XP_016862262.1:p.Thr1343HisfsTer?
XM_017006774.1:c.4006del XP_016862263.1:p.Thr1336HisfsTer?
XM_017006775.1:c.3970del XP_016862264.1:p.Thr1324HisfsTer?
XM_017006776.1:c.3712del XP_016862265.1:p.Thr1238HisfsTer?
XM_017006777.1:c.3712del XP_016862266.1:p.Thr1238HisfsTer?
XM_017006778.1:c.3712del XP_016862267.1:p.Thr1238HisfsTer?
XM_017006779.1:c.3673del XP_016862268.1:p.Thr1225HisfsTer?
XM_017006780.1:c.3673del XP_016862269.1:p.Thr1225HisfsTer?
XM_017006783.1:c.3445del XP_016862272.1:p.Thr1149HisfsTer?
XM_024453620.1:c.4084del XP_024309388.1:p.Thr1362HisfsTer?
XM_024453621.1:c.3760del XP_024309389.1:p.Thr1254HisfsTer?
XR_001740195.2:n.8332del
NM_001080517.3:c.3949del MANE Select NP_001073986.1:p.Thr1317HisfsTer?
NM_001292043.2:c.3655del NP_001278972.1:p.Thr1219HisfsTer?
NM_001349451.2:c.3655del NP_001336380.1:p.Thr1219HisfsTer?