Canonical Allele Identifier: CA912791089
Gene: SETD5 HGNC NCBI

Linked Data

dbSNP Id: rs1244593031

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.9475578_9475579del , CM000665.2:g.9475578_9475579del GRCh38
NC_000003.11:g.9517262_9517263del , CM000665.1:g.9517262_9517263del GRCh37
NC_000003.10:g.9492262_9492263del NCBI36
NG_034132.1:g.82879_82880del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682236.1:n.2771_2772del
ENST00000682536.1:c.3912_3913del ENSP00000507956.1:p.Tyr1304Ter
ENST00000687014.1:n.4805_4806del
ENST00000689167.1:n.2196_2197del
ENST00000691925.1:n.6613_6614del
ENST00000693430.1:n.6058_6059del
ENST00000402198.7:c.3816_3817del MANE Select ENSP00000385852.2:p.Tyr1272Ter
ENST00000663774.1:c.*3962_*3963del ENSP00000499452.1:n.*3962_*3963del
ENST00000665872.1:c.*3885_*3886del ENSP00000499600.1:n.*3885_*3886del
ENST00000666307.1:c.*4190_*4191del ENSP00000499402.1:n.*4190_*4191del
ENST00000670063.1:c.*3921_*3922del ENSP00000499725.1:n.*3921_*3922del
ENST00000302463.10:c.3522_3523del ENSP00000302028.6:p.Tyr1174Ter
ENST00000399686.6:c.2722+422_2722+423del
ENST00000402198.5:c.3816_3817del ENSP00000385852.1:p.Tyr1272Ter
ENST00000406341.5:c.3816_3817del ENSP00000383939.1:p.Tyr1272Ter
ENST00000407969.5:c.3873_3874del ENSP00000384114.1:p.Tyr1291Ter
ENST00000413704.5:c.2852_2853del
ENST00000459941.1:n.947_948del
ENST00000466242.5:n.3157_3158del
ENST00000466826.1:n.203_204del
ENST00000493918.5:n.3980_3981del
NM_001080517.2:c.3816_3817del NP_001073986.1:p.Tyr1272Ter
NM_001292043.1:c.3522_3523del NP_001278972.1:p.Tyr1174Ter
XM_005265301.1:c.3873_3874del XP_005265358.1:p.Tyr1291Ter
XM_005265303.1:c.3816_3817del XP_005265360.1:p.Tyr1272Ter
XM_011533920.1:c.3990_3991del XP_011532222.1:p.Tyr1330Ter
XM_011533921.1:c.3990_3991del XP_011532223.1:p.Tyr1330Ter
XM_011533922.1:c.3969_3970del XP_011532224.1:p.Tyr1323Ter
XM_011533923.1:c.3969_3970del XP_011532225.1:p.Tyr1323Ter
XM_011533924.1:c.3969_3970del XP_011532226.1:p.Tyr1323Ter
XM_011533925.1:c.3951_3952del XP_011532227.1:p.Tyr1317Ter
XM_011533926.1:c.3933_3934del XP_011532228.1:p.Tyr1311Ter
XM_011533927.1:c.3933_3934del XP_011532229.1:p.Tyr1311Ter
XM_011533928.1:c.3912_3913del XP_011532230.1:p.Tyr1304Ter
XM_011533929.1:c.3894_3895del XP_011532231.1:p.Tyr1298Ter
XM_011533930.1:c.3855_3856del XP_011532232.1:p.Tyr1285Ter
XM_011533931.1:c.3579_3580del XP_011532233.1:p.Tyr1193Ter
XM_011533932.1:c.3540_3541del XP_011532234.1:p.Tyr1180Ter
XM_011533933.1:c.3540_3541del XP_011532235.1:p.Tyr1180Ter
NM_001349451.1:c.3522_3523del NP_001336380.1:p.Tyr1174Ter
XM_011533921.2:c.3990_3991del XP_011532223.1:p.Tyr1330Ter
XM_017006767.1:c.3990_3991del XP_016862256.1:p.Tyr1330Ter
XM_017006768.2:c.3969_3970del XP_016862257.1:p.Tyr1323Ter
XM_017006770.1:c.3933_3934del XP_016862259.1:p.Tyr1311Ter
XM_017006771.1:c.3930_3931del XP_016862260.1:p.Tyr1310Ter
XM_017006772.1:c.3894_3895del XP_016862261.1:p.Tyr1298Ter
XM_017006773.1:c.3894_3895del XP_016862262.1:p.Tyr1298Ter
XM_017006774.1:c.3873_3874del XP_016862263.1:p.Tyr1291Ter
XM_017006775.1:c.3837_3838del XP_016862264.1:p.Tyr1279Ter
XM_017006776.1:c.3579_3580del XP_016862265.1:p.Tyr1193Ter
XM_017006777.1:c.3579_3580del XP_016862266.1:p.Tyr1193Ter
XM_017006778.1:c.3579_3580del XP_016862267.1:p.Tyr1193Ter
XM_017006779.1:c.3540_3541del XP_016862268.1:p.Tyr1180Ter
XM_017006780.1:c.3540_3541del XP_016862269.1:p.Tyr1180Ter
XM_017006783.1:c.3312_3313del XP_016862272.1:p.Tyr1104Ter
XM_024453620.1:c.3951_3952del XP_024309388.1:p.Tyr1317Ter
XM_024453621.1:c.3627_3628del XP_024309389.1:p.Tyr1209Ter
XR_001740195.2:n.8199_8200del
NM_001080517.3:c.3816_3817del MANE Select NP_001073986.1:p.Tyr1272Ter
NM_001292043.2:c.3522_3523del NP_001278972.1:p.Tyr1174Ter
NM_001349451.2:c.3522_3523del NP_001336380.1:p.Tyr1174Ter