Canonical Allele Identifier: CA1139657877

Gene: SETD5

Linked Data

• ClinVar Variation Id: 916061
• ClinVar RCV Id: RCV001171562
• dbSNP Id: rs2045541526

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9473407_9473408insG , CM000665.2:g.9473407_9473408insG	GRCh38
NC_000003.11:g.9515091_9515092insG , CM000665.1:g.9515091_9515092insG	GRCh37
NC_000003.10:g.9490091_9490092insG	NCBI36
NG_034132.1:g.80708_80709insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682236.1:n.1837_1838insG
ENST00000682536.1:c.3463_3464insG	ENSP00000507956.1:p.Pro1155ArgfsTer?
ENST00000687014.1:n.3871_3872insG
ENST00000689167.1:n.936_937insG
ENST00000691925.1:n.4442_4443insG
ENST00000693430.1:n.4798_4799insG
ENST00000402198.7:c.3367_3368insG MANE Select	ENSP00000385852.2:p.Pro1123ArgfsTer?
ENST00000663774.1:c.*3513_*3514insG	ENSP00000499452.1:n.*3513_*3514insG
ENST00000665872.1:c.*3436_*3437insG	ENSP00000499600.1:n.*3436_*3437insG
ENST00000666307.1:c.*3741_*3742insG	ENSP00000499402.1:n.*3741_*3742insG
ENST00000670063.1:c.*3472_*3473insG	ENSP00000499725.1:n.*3472_*3473insG
ENST00000302463.10:c.3073_3074insG	ENSP00000302028.6:p.Pro1025ArgfsTer?
ENST00000399686.6:c.2369_2370insG
ENST00000402198.5:c.3367_3368insG	ENSP00000385852.1:p.Pro1123ArgfsTer?
ENST00000406341.5:c.3367_3368insG	ENSP00000383939.1:p.Pro1123ArgfsTer?
ENST00000407969.5:c.3424_3425insG	ENSP00000384114.1:p.Pro1142ArgfsTer?
ENST00000413704.5:c.2403_2404insG
ENST00000459941.1:n.13_14insG
ENST00000466242.5:n.2708_2709insG
ENST00000486465.5:n.435_436insG
ENST00000492939.5:n.172_173insG
ENST00000493918.5:n.3531_3532insG
NM_001080517.2:c.3367_3368insG	NP_001073986.1:p.Pro1123ArgfsTer?
NM_001292043.1:c.3073_3074insG	NP_001278972.1:p.Pro1025ArgfsTer?
XM_005265301.1:c.3424_3425insG	XP_005265358.1:p.Pro1142ArgfsTer?
XM_005265303.1:c.3367_3368insG	XP_005265360.1:p.Pro1123ArgfsTer?
XM_011533920.1:c.3541_3542insG	XP_011532222.1:p.Pro1181ArgfsTer?
XM_011533921.1:c.3541_3542insG	XP_011532223.1:p.Pro1181ArgfsTer?
XM_011533922.1:c.3520_3521insG	XP_011532224.1:p.Pro1174ArgfsTer?
XM_011533923.1:c.3520_3521insG	XP_011532225.1:p.Pro1174ArgfsTer?
XM_011533924.1:c.3520_3521insG	XP_011532226.1:p.Pro1174ArgfsTer?
XM_011533925.1:c.3502_3503insG	XP_011532227.1:p.Pro1168ArgfsTer?
XM_011533926.1:c.3484_3485insG	XP_011532228.1:p.Pro1162ArgfsTer?
XM_011533927.1:c.3484_3485insG	XP_011532229.1:p.Pro1162ArgfsTer?
XM_011533928.1:c.3463_3464insG	XP_011532230.1:p.Pro1155ArgfsTer?
XM_011533929.1:c.3445_3446insG	XP_011532231.1:p.Pro1149ArgfsTer?
XM_011533930.1:c.3406_3407insG	XP_011532232.1:p.Pro1136ArgfsTer?
XM_011533931.1:c.3130_3131insG	XP_011532233.1:p.Pro1044ArgfsTer?
XM_011533932.1:c.3091_3092insG	XP_011532234.1:p.Pro1031ArgfsTer?
XM_011533933.1:c.3091_3092insG	XP_011532235.1:p.Pro1031ArgfsTer?
XM_011533934.1:c.3541_3542insG	XP_011532236.1:p.Pro1181ArgfsTer?
NM_001349451.1:c.3073_3074insG	NP_001336380.1:p.Pro1025ArgfsTer?
XM_011533921.2:c.3541_3542insG	XP_011532223.1:p.Pro1181ArgfsTer?
XM_017006767.1:c.3541_3542insG	XP_016862256.1:p.Pro1181ArgfsTer?
XM_017006768.2:c.3520_3521insG	XP_016862257.1:p.Pro1174ArgfsTer?
XM_017006770.1:c.3484_3485insG	XP_016862259.1:p.Pro1162ArgfsTer?
XM_017006771.1:c.3481_3482insG	XP_016862260.1:p.Pro1161ArgfsTer?
XM_017006772.1:c.3445_3446insG	XP_016862261.1:p.Pro1149ArgfsTer?
XM_017006773.1:c.3445_3446insG	XP_016862262.1:p.Pro1149ArgfsTer?
XM_017006774.1:c.3424_3425insG	XP_016862263.1:p.Pro1142ArgfsTer?
XM_017006775.1:c.3388_3389insG	XP_016862264.1:p.Pro1130ArgfsTer?
XM_017006776.1:c.3130_3131insG	XP_016862265.1:p.Pro1044ArgfsTer?
XM_017006777.1:c.3130_3131insG	XP_016862266.1:p.Pro1044ArgfsTer?
XM_017006778.1:c.3130_3131insG	XP_016862267.1:p.Pro1044ArgfsTer?
XM_017006779.1:c.3091_3092insG	XP_016862268.1:p.Pro1031ArgfsTer?
XM_017006780.1:c.3091_3092insG	XP_016862269.1:p.Pro1031ArgfsTer?
XM_017006782.1:c.3541_3542insG	XP_016862271.1:p.Pro1181ArgfsTer?
XM_017006783.1:c.2863_2864insG	XP_016862272.1:p.Pro955ArgfsTer?
XM_024453620.1:c.3502_3503insG	XP_024309388.1:p.Pro1168ArgfsTer?
XM_024453621.1:c.3178_3179insG	XP_024309389.1:p.Pro1060ArgfsTer?
XR_001740195.2:n.7750_7751insG
NM_001080517.3:c.3367_3368insG MANE Select	NP_001073986.1:p.Pro1123ArgfsTer?
NM_001292043.2:c.3073_3074insG	NP_001278972.1:p.Pro1025ArgfsTer?
NM_001349451.2:c.3073_3074insG	NP_001336380.1:p.Pro1025ArgfsTer?