Canonical Allele Identifier: CA2239636

Gene: SETD5

Linked Data

• ClinVar Variation Id: 2957769
• ClinVar RCV Id: RCV003811432
• dbSNP Id: rs758703016
• ExAC: 3:9514904 G / GT
• gnomAD v2: 3-9514904-G-GT
• gnomAD v3: 3-9473220-G-GT
• gnomAD v4: 3-9473220-G-GT
• MyVariant Identifiers: chr3:g.9514904_9514905insT (hg19) ; chr3:g.9473220_9473221insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9473226dup , CM000665.2:g.9473226dup	GRCh38
NC_000003.11:g.9514910dup , CM000665.1:g.9514910dup	GRCh37
NC_000003.10:g.9489910dup	NCBI36
NG_034132.1:g.80527dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682236.1:n.1666-10dup
ENST00000682536.1:c.3292-10dup	ENSP00000507956.1:n.3292-10dup
ENST00000687014.1:n.3700-10dup
ENST00000689167.1:n.755dup
ENST00000691925.1:n.4271-10dup
ENST00000693430.1:n.4627-10dup
ENST00000402198.7:c.3196-10dup MANE Select	ENSP00000385852.2:n.3196-10dup
ENST00000663774.1:c.*3342-10dup	ENSP00000499452.1:n.*3342-10dup
ENST00000665872.1:c.*3265-10dup	ENSP00000499600.1:n.*3265-10dup
ENST00000666307.1:c.*3570-10dup	ENSP00000499402.1:n.*3570-10dup
ENST00000670063.1:c.*3301-10dup	ENSP00000499725.1:n.*3301-10dup
ENST00000302463.10:c.2902-10dup	ENSP00000302028.6:n.2902-10dup
ENST00000399686.6:c.2198-10dup
ENST00000402198.5:c.3196-10dup	ENSP00000385852.1:n.3196-10dup
ENST00000406341.5:c.3196-10dup	ENSP00000383939.1:n.3196-10dup
ENST00000407969.5:c.3253-10dup	ENSP00000384114.1:n.3253-10dup
ENST00000413704.5:c.2232-10dup
ENST00000421188.1:c.1187-10dup
ENST00000466242.5:n.2537-10dup
ENST00000486465.5:n.264-10dup
ENST00000493918.5:n.3360-10dup
NM_001080517.2:c.3196-10dup	NP_001073986.1:n.3196-10dup
NM_001292043.1:c.2902-10dup	NP_001278972.1:n.2902-10dup
XM_005265301.1:c.3253-10dup	XP_005265358.1:n.3253-10dup
XM_005265303.1:c.3196-10dup	XP_005265360.1:n.3196-10dup
XM_011533920.1:c.3370-10dup	XP_011532222.1:n.3370-10dup
XM_011533921.1:c.3370-10dup	XP_011532223.1:n.3370-10dup
XM_011533922.1:c.3349-10dup	XP_011532224.1:n.3349-10dup
XM_011533923.1:c.3349-10dup	XP_011532225.1:n.3349-10dup
XM_011533924.1:c.3349-10dup	XP_011532226.1:n.3349-10dup
XM_011533925.1:c.3331-10dup	XP_011532227.1:n.3331-10dup
XM_011533926.1:c.3313-10dup	XP_011532228.1:n.3313-10dup
XM_011533927.1:c.3313-10dup	XP_011532229.1:n.3313-10dup
XM_011533928.1:c.3292-10dup	XP_011532230.1:n.3292-10dup
XM_011533929.1:c.3274-10dup	XP_011532231.1:n.3274-10dup
XM_011533930.1:c.3235-10dup	XP_011532232.1:n.3235-10dup
XM_011533931.1:c.2959-10dup	XP_011532233.1:n.2959-10dup
XM_011533932.1:c.2920-10dup	XP_011532234.1:n.2920-10dup
XM_011533933.1:c.2920-10dup	XP_011532235.1:n.2920-10dup
XM_011533934.1:c.3370-10dup	XP_011532236.1:n.3370-10dup
NM_001349451.1:c.2902-10dup	NP_001336380.1:n.2902-10dup
XM_011533921.2:c.3370-10dup	XP_011532223.1:n.3370-10dup
XM_017006767.1:c.3370-10dup	XP_016862256.1:n.3370-10dup
XM_017006768.2:c.3349-10dup	XP_016862257.1:n.3349-10dup
XM_017006770.1:c.3313-10dup	XP_016862259.1:n.3313-10dup
XM_017006771.1:c.3310-10dup	XP_016862260.1:n.3310-10dup
XM_017006772.1:c.3274-10dup	XP_016862261.1:n.3274-10dup
XM_017006773.1:c.3274-10dup	XP_016862262.1:n.3274-10dup
XM_017006774.1:c.3253-10dup	XP_016862263.1:n.3253-10dup
XM_017006775.1:c.3217-10dup	XP_016862264.1:n.3217-10dup
XM_017006776.1:c.2959-10dup	XP_016862265.1:n.2959-10dup
XM_017006777.1:c.2959-10dup	XP_016862266.1:n.2959-10dup
XM_017006778.1:c.2959-10dup	XP_016862267.1:n.2959-10dup
XM_017006779.1:c.2920-10dup	XP_016862268.1:n.2920-10dup
XM_017006780.1:c.2920-10dup	XP_016862269.1:n.2920-10dup
XM_017006782.1:c.3370-10dup	XP_016862271.1:n.3370-10dup
XM_017006783.1:c.2692-10dup	XP_016862272.1:n.2692-10dup
XM_024453620.1:c.3331-10dup	XP_024309388.1:n.3331-10dup
XM_024453621.1:c.3007-10dup	XP_024309389.1:n.3007-10dup
XR_001740195.2:n.7579-10dup
NM_001080517.3:c.3196-10dup MANE Select	NP_001073986.1:n.3196-10dup
NM_001292043.2:c.2902-10dup	NP_001278972.1:n.2902-10dup
NM_001349451.2:c.2902-10dup	NP_001336380.1:n.2902-10dup