Canonical Allele Identifier: CA16618013
Gene: SETD5 HGNC NCBI

Linked Data

dbSNP Id: rs1064796348

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.9473306_9473307del , CM000665.2:g.9473306_9473307del GRCh38
NC_000003.11:g.9514990_9514991del , CM000665.1:g.9514990_9514991del GRCh37
NC_000003.10:g.9489990_9489991del NCBI36
NG_034132.1:g.80607_80608del

Transcript Alleles

HGVS Amino-acid change
ENST00000682236.1:n.1736_1737del
ENST00000682536.1:c.3362_3363del ENSP00000507956.1:p.Ser1121CysfsTer16
ENST00000687014.1:n.3770_3771del
ENST00000689167.1:n.835_836del
ENST00000691925.1:n.4341_4342del
ENST00000693430.1:n.4697_4698del
ENST00000402198.7:c.3266_3267del MANE Select ENSP00000385852.2:p.Ser1089CysfsTer16
ENST00000663774.1:c.*3412_*3413del ENSP00000499452.1:n.*3412_*3413del
ENST00000665872.1:c.*3335_*3336del ENSP00000499600.1:n.*3335_*3336del
ENST00000666307.1:c.*3640_*3641del ENSP00000499402.1:n.*3640_*3641del
ENST00000670063.1:c.*3371_*3372del ENSP00000499725.1:n.*3371_*3372del
ENST00000302463.10:c.2972_2973del ENSP00000302028.6:p.Ser991CysfsTer16
ENST00000399686.6:c.2268_2269del
ENST00000402198.5:c.3266_3267del ENSP00000385852.1:p.Ser1089CysfsTer16
ENST00000406341.5:c.3266_3267del ENSP00000383939.1:p.Ser1089CysfsTer16
ENST00000407969.5:c.3323_3324del ENSP00000384114.1:p.Ser1108CysfsTer16
ENST00000413704.5:c.2302_2303del
ENST00000421188.1:c.1257_1258del
ENST00000466242.5:n.2607_2608del
ENST00000486465.5:n.334_335del
ENST00000492939.5:n.71_72del
ENST00000493918.5:n.3430_3431del
NM_001080517.2:c.3266_3267del NP_001073986.1:p.Ser1089CysfsTer16
NM_001292043.1:c.2972_2973del NP_001278972.1:p.Ser991CysfsTer16
XM_005265301.1:c.3323_3324del XP_005265358.1:p.Ser1108CysfsTer16
XM_005265303.1:c.3266_3267del XP_005265360.1:p.Ser1089CysfsTer16
XM_011533920.1:c.3440_3441del XP_011532222.1:p.Ser1147CysfsTer16
XM_011533921.1:c.3440_3441del XP_011532223.1:p.Ser1147CysfsTer16
XM_011533922.1:c.3419_3420del XP_011532224.1:p.Ser1140CysfsTer16
XM_011533923.1:c.3419_3420del XP_011532225.1:p.Ser1140CysfsTer16
XM_011533924.1:c.3419_3420del XP_011532226.1:p.Ser1140CysfsTer16
XM_011533925.1:c.3401_3402del XP_011532227.1:p.Ser1134CysfsTer16
XM_011533926.1:c.3383_3384del XP_011532228.1:p.Ser1128CysfsTer16
XM_011533927.1:c.3383_3384del XP_011532229.1:p.Ser1128CysfsTer16
XM_011533928.1:c.3362_3363del XP_011532230.1:p.Ser1121CysfsTer16
XM_011533929.1:c.3344_3345del XP_011532231.1:p.Ser1115CysfsTer16
XM_011533930.1:c.3305_3306del XP_011532232.1:p.Ser1102CysfsTer16
XM_011533931.1:c.3029_3030del XP_011532233.1:p.Ser1010CysfsTer16
XM_011533932.1:c.2990_2991del XP_011532234.1:p.Ser997CysfsTer16
XM_011533933.1:c.2990_2991del XP_011532235.1:p.Ser997CysfsTer16
XM_011533934.1:c.3440_3441del XP_011532236.1:p.Ser1147CysfsTer16
NM_001349451.1:c.2972_2973del NP_001336380.1:p.Ser991CysfsTer16
XM_011533921.2:c.3440_3441del XP_011532223.1:p.Ser1147CysfsTer16
XM_017006767.1:c.3440_3441del XP_016862256.1:p.Ser1147CysfsTer16
XM_017006768.2:c.3419_3420del XP_016862257.1:p.Ser1140CysfsTer16
XM_017006770.1:c.3383_3384del XP_016862259.1:p.Ser1128CysfsTer16
XM_017006771.1:c.3380_3381del XP_016862260.1:p.Ser1127CysfsTer16
XM_017006772.1:c.3344_3345del XP_016862261.1:p.Ser1115CysfsTer16
XM_017006773.1:c.3344_3345del XP_016862262.1:p.Ser1115CysfsTer16
XM_017006774.1:c.3323_3324del XP_016862263.1:p.Ser1108CysfsTer16
XM_017006775.1:c.3287_3288del XP_016862264.1:p.Ser1096CysfsTer16
XM_017006776.1:c.3029_3030del XP_016862265.1:p.Ser1010CysfsTer16
XM_017006777.1:c.3029_3030del XP_016862266.1:p.Ser1010CysfsTer16
XM_017006778.1:c.3029_3030del XP_016862267.1:p.Ser1010CysfsTer16
XM_017006779.1:c.2990_2991del XP_016862268.1:p.Ser997CysfsTer16
XM_017006780.1:c.2990_2991del XP_016862269.1:p.Ser997CysfsTer16
XM_017006782.1:c.3440_3441del XP_016862271.1:p.Ser1147CysfsTer16
XM_017006783.1:c.2762_2763del XP_016862272.1:p.Ser921CysfsTer16
XM_024453620.1:c.3401_3402del XP_024309388.1:p.Ser1134CysfsTer16
XM_024453621.1:c.3077_3078del XP_024309389.1:p.Ser1026CysfsTer16
XR_001740195.2:n.7649_7650del
NM_001080517.3:c.3266_3267del MANE Select NP_001073986.1:p.Ser1089CysfsTer16
NM_001292043.2:c.2972_2973del NP_001278972.1:p.Ser991CysfsTer16
NM_001349451.2:c.2972_2973del NP_001336380.1:p.Ser991CysfsTer16