Canonical Allele Identifier: CA540860015

Gene: SETD5

Linked Data

• dbSNP Id: rs1559498388
• gnomAD v2: 3-9517132-CGCGT-C
• gnomAD v4: 3-9475448-CGCGT-C
• MyVariant Identifiers: chr3:g.9517133_9517136del (hg19) ; chr3:g.9475449_9475452del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9475449_9475452del , CM000665.2:g.9475449_9475452del	GRCh38
NC_000003.11:g.9517133_9517136del , CM000665.1:g.9517133_9517136del	GRCh37
NC_000003.10:g.9492133_9492136del	NCBI36
NG_034132.1:g.82750_82753del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682236.1:n.2676-34_2676-31del
ENST00000682536.1:c.3817-34_3817-31del	ENSP00000507956.1:n.3817-34_3817-31del
ENST00000687014.1:n.4710-34_4710-31del
ENST00000689167.1:n.2067_2070del
ENST00000691925.1:n.6484_6487del
ENST00000693430.1:n.5929_5932del
ENST00000402198.7:c.3721-34_3721-31del MANE Select	ENSP00000385852.2:n.3721-34_3721-31del
ENST00000663774.1:c.*3867-34_*3867-31del	ENSP00000499452.1:n.*3867-34_*3867-31del
ENST00000665872.1:c.*3790-34_*3790-31del	ENSP00000499600.1:n.*3790-34_*3790-31del
ENST00000666307.1:c.*4095-34_*4095-31del	ENSP00000499402.1:n.*4095-34_*4095-31del
ENST00000670063.1:c.*3826-34_*3826-31del	ENSP00000499725.1:n.*3826-34_*3826-31del
ENST00000302463.10:c.3427-34_3427-31del	ENSP00000302028.6:n.3427-34_3427-31del
ENST00000399686.6:c.2722+293_2722+296del
ENST00000402198.5:c.3721-34_3721-31del	ENSP00000385852.1:n.3721-34_3721-31del
ENST00000406341.5:c.3721-34_3721-31del	ENSP00000383939.1:n.3721-34_3721-31del
ENST00000407969.5:c.3778-34_3778-31del	ENSP00000384114.1:n.3778-34_3778-31del
ENST00000413704.5:c.2757-34_2757-31del
ENST00000459941.1:n.852-34_852-31del
ENST00000466242.5:n.3062-34_3062-31del
ENST00000466826.1:n.108-34_108-31del
ENST00000493918.5:n.3885-34_3885-31del
NM_001080517.2:c.3721-34_3721-31del	NP_001073986.1:n.3721-34_3721-31del
NM_001292043.1:c.3427-34_3427-31del	NP_001278972.1:n.3427-34_3427-31del
XM_005265301.1:c.3778-34_3778-31del	XP_005265358.1:n.3778-34_3778-31del
XM_005265303.1:c.3721-34_3721-31del	XP_005265360.1:n.3721-34_3721-31del
XM_011533920.1:c.3895-34_3895-31del	XP_011532222.1:n.3895-34_3895-31del
XM_011533921.1:c.3895-34_3895-31del	XP_011532223.1:n.3895-34_3895-31del
XM_011533922.1:c.3874-34_3874-31del	XP_011532224.1:n.3874-34_3874-31del
XM_011533923.1:c.3874-34_3874-31del	XP_011532225.1:n.3874-34_3874-31del
XM_011533924.1:c.3874-34_3874-31del	XP_011532226.1:n.3874-34_3874-31del
XM_011533925.1:c.3856-34_3856-31del	XP_011532227.1:n.3856-34_3856-31del
XM_011533926.1:c.3838-34_3838-31del	XP_011532228.1:n.3838-34_3838-31del
XM_011533927.1:c.3838-34_3838-31del	XP_011532229.1:n.3838-34_3838-31del
XM_011533928.1:c.3817-34_3817-31del	XP_011532230.1:n.3817-34_3817-31del
XM_011533929.1:c.3799-34_3799-31del	XP_011532231.1:n.3799-34_3799-31del
XM_011533930.1:c.3760-34_3760-31del	XP_011532232.1:n.3760-34_3760-31del
XM_011533931.1:c.3484-34_3484-31del	XP_011532233.1:n.3484-34_3484-31del
XM_011533932.1:c.3445-34_3445-31del	XP_011532234.1:n.3445-34_3445-31del
XM_011533933.1:c.3445-34_3445-31del	XP_011532235.1:n.3445-34_3445-31del
XM_011533934.1:c.*126_*129del	XP_011532236.1:n.*126_*129del
NM_001349451.1:c.3427-34_3427-31del	NP_001336380.1:n.3427-34_3427-31del
XM_011533921.2:c.3895-34_3895-31del	XP_011532223.1:n.3895-34_3895-31del
XM_017006767.1:c.3895-34_3895-31del	XP_016862256.1:n.3895-34_3895-31del
XM_017006768.2:c.3874-34_3874-31del	XP_016862257.1:n.3874-34_3874-31del
XM_017006770.1:c.3838-34_3838-31del	XP_016862259.1:n.3838-34_3838-31del
XM_017006771.1:c.3835-34_3835-31del	XP_016862260.1:n.3835-34_3835-31del
XM_017006772.1:c.3799-34_3799-31del	XP_016862261.1:n.3799-34_3799-31del
XM_017006773.1:c.3799-34_3799-31del	XP_016862262.1:n.3799-34_3799-31del
XM_017006774.1:c.3778-34_3778-31del	XP_016862263.1:n.3778-34_3778-31del
XM_017006775.1:c.3742-34_3742-31del	XP_016862264.1:n.3742-34_3742-31del
XM_017006776.1:c.3484-34_3484-31del	XP_016862265.1:n.3484-34_3484-31del
XM_017006777.1:c.3484-34_3484-31del	XP_016862266.1:n.3484-34_3484-31del
XM_017006778.1:c.3484-34_3484-31del	XP_016862267.1:n.3484-34_3484-31del
XM_017006779.1:c.3445-34_3445-31del	XP_016862268.1:n.3445-34_3445-31del
XM_017006780.1:c.3445-34_3445-31del	XP_016862269.1:n.3445-34_3445-31del
XM_017006782.1:c.*126_*129del	XP_016862271.1:n.*126_*129del
XM_017006783.1:c.3217-34_3217-31del	XP_016862272.1:n.3217-34_3217-31del
XM_024453620.1:c.3856-34_3856-31del	XP_024309388.1:n.3856-34_3856-31del
XM_024453621.1:c.3532-34_3532-31del	XP_024309389.1:n.3532-34_3532-31del
XR_001740195.2:n.8104-34_8104-31del
NM_001080517.3:c.3721-34_3721-31del MANE Select	NP_001073986.1:n.3721-34_3721-31del
NM_001292043.2:c.3427-34_3427-31del	NP_001278972.1:n.3427-34_3427-31del
NM_001349451.2:c.3427-34_3427-31del	NP_001336380.1:n.3427-34_3427-31del