Canonical Allele Identifier: CA251338

Gene: SETD5

Linked Data

• ClinVar Variation Id: 127106
• ClinVar RCV Id: RCV000114964 ; RCV000623440 ; RCV001268332
• dbSNP Id: rs587777329
• gnomAD v2: 3-9517301-CT-C
• gnomAD v4: 3-9475617-CT-C
• MyVariant Identifiers: chr3:g.9517302del (hg19) ; chr3:g.9475618del (hg38)
• PubMed: PMID:7477409 ; PMID:10699187 ; PMID:11390661 ; PMID:12130538 ; PMID:12540855 ; PMID:12805229 ; PMID:14681479 ; PMID:15774718 ; PMID:16086857 ; PMID:16919862 ; PMID:17013555 ; PMID:17100993 ; PMID:17151600 ; PMID:19760623 ; PMID:21082655 ; PMID:22495311 ; PMID:22965684 ; PMID:22986149 ; PMID:23020937 ; PMID:23613140 ; PMID:24680889 ; PMID:26482601 ; PMID:27334371 ; PMID:27375234 ; PMID:28866611 ; PMID:28881385

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9475618del , CM000665.2:g.9475618del	GRCh38
NC_000003.11:g.9517302del , CM000665.1:g.9517302del	GRCh37
NC_000003.10:g.9492302del	NCBI36
NG_034132.1:g.82919del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682236.1:n.2811del
ENST00000682536.1:c.3952del	ENSP00000507956.1:p.Ser1318LeufsTer?
ENST00000687014.1:n.4845del
ENST00000689167.1:n.2236del
ENST00000691925.1:n.6653del
ENST00000693430.1:n.6098del
ENST00000402198.7:c.3856del MANE Select	ENSP00000385852.2:p.Ser1286LeufsTer?
ENST00000663774.1:c.*4002del	ENSP00000499452.1:n.*4002del
ENST00000665872.1:c.*3925del	ENSP00000499600.1:n.*3925del
ENST00000666307.1:c.*4230del	ENSP00000499402.1:n.*4230del
ENST00000670063.1:c.*3961del	ENSP00000499725.1:n.*3961del
ENST00000302463.10:c.3562del	ENSP00000302028.6:p.Ser1188LeufsTer?
ENST00000399686.6:c.2722+462del
ENST00000402198.5:c.3856del	ENSP00000385852.1:p.Ser1286LeufsTer?
ENST00000406341.5:c.3856del	ENSP00000383939.1:p.Ser1286LeufsTer?
ENST00000407969.5:c.3913del	ENSP00000384114.1:p.Ser1305LeufsTer?
ENST00000413704.5:c.2892del
ENST00000459941.1:n.987del
ENST00000466242.5:n.3197del
ENST00000466826.1:n.243del
ENST00000493918.5:n.4020del
NM_001080517.2:c.3856del	NP_001073986.1:p.Ser1286LeufsTer?
NM_001292043.1:c.3562del	NP_001278972.1:p.Ser1188LeufsTer?
XM_005265301.1:c.3913del	XP_005265358.1:p.Ser1305LeufsTer?
XM_005265303.1:c.3856del	XP_005265360.1:p.Ser1286LeufsTer?
XM_011533920.1:c.4030del	XP_011532222.1:p.Ser1344LeufsTer?
XM_011533921.1:c.4030del	XP_011532223.1:p.Ser1344LeufsTer?
XM_011533922.1:c.4009del	XP_011532224.1:p.Ser1337LeufsTer?
XM_011533923.1:c.4009del	XP_011532225.1:p.Ser1337LeufsTer?
XM_011533924.1:c.4009del	XP_011532226.1:p.Ser1337LeufsTer?
XM_011533925.1:c.3991del	XP_011532227.1:p.Ser1331LeufsTer?
XM_011533926.1:c.3973del	XP_011532228.1:p.Ser1325LeufsTer?
XM_011533927.1:c.3973del	XP_011532229.1:p.Ser1325LeufsTer?
XM_011533928.1:c.3952del	XP_011532230.1:p.Ser1318LeufsTer?
XM_011533929.1:c.3934del	XP_011532231.1:p.Ser1312LeufsTer?
XM_011533930.1:c.3895del	XP_011532232.1:p.Ser1299LeufsTer?
XM_011533931.1:c.3619del	XP_011532233.1:p.Ser1207LeufsTer?
XM_011533932.1:c.3580del	XP_011532234.1:p.Ser1194LeufsTer?
XM_011533933.1:c.3580del	XP_011532235.1:p.Ser1194LeufsTer?
NM_001349451.1:c.3562del	NP_001336380.1:p.Ser1188LeufsTer?
XM_011533921.2:c.4030del	XP_011532223.1:p.Ser1344LeufsTer?
XM_017006767.1:c.4030del	XP_016862256.1:p.Ser1344LeufsTer?
XM_017006768.2:c.4009del	XP_016862257.1:p.Ser1337LeufsTer?
XM_017006770.1:c.3973del	XP_016862259.1:p.Ser1325LeufsTer?
XM_017006771.1:c.3970del	XP_016862260.1:p.Ser1324LeufsTer?
XM_017006772.1:c.3934del	XP_016862261.1:p.Ser1312LeufsTer?
XM_017006773.1:c.3934del	XP_016862262.1:p.Ser1312LeufsTer?
XM_017006774.1:c.3913del	XP_016862263.1:p.Ser1305LeufsTer?
XM_017006775.1:c.3877del	XP_016862264.1:p.Ser1293LeufsTer?
XM_017006776.1:c.3619del	XP_016862265.1:p.Ser1207LeufsTer?
XM_017006777.1:c.3619del	XP_016862266.1:p.Ser1207LeufsTer?
XM_017006778.1:c.3619del	XP_016862267.1:p.Ser1207LeufsTer?
XM_017006779.1:c.3580del	XP_016862268.1:p.Ser1194LeufsTer?
XM_017006780.1:c.3580del	XP_016862269.1:p.Ser1194LeufsTer?
XM_017006783.1:c.3352del	XP_016862272.1:p.Ser1118LeufsTer?
XM_024453620.1:c.3991del	XP_024309388.1:p.Ser1331LeufsTer?
XM_024453621.1:c.3667del	XP_024309389.1:p.Ser1223LeufsTer?
XR_001740195.2:n.8239del
NM_001080517.3:c.3856del MANE Select	NP_001073986.1:p.Ser1286LeufsTer?
NM_001292043.2:c.3562del	NP_001278972.1:p.Ser1188LeufsTer?
NM_001349451.2:c.3562del	NP_001336380.1:p.Ser1188LeufsTer?