Canonical Allele Identifier: CA658657446

Gene: SETD9

Linked Data

• ClinVar Variation Id: 487781
• ClinVar RCV Id: RCV000577837
• dbSNP Id: rs1554039146
• MyVariant Identifiers: chr5:g.56210766_56210774del (hg19) ; chr5:g.56914939_56914947del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56914942_56914950del , CM000667.2:g.56914942_56914950del	GRCh38
NC_000005.9:g.56210769_56210777del , CM000667.1:g.56210769_56210777del	GRCh37
NC_000005.8:g.56246526_56246534del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285947.5:c.788_796del MANE Select	ENSP00000285947.2:p.Ile263_Tyr265del
ENST00000285947.4:c.788_796del	ENSP00000285947.2:p.Ile263_Tyr265del
ENST00000418299.5:c.*300_*308del	ENSP00000398449.1:n.*300_*308del
ENST00000463805.5:n.657_665del
ENST00000475908.5:n.751_759del
ENST00000628593.1:c.788_796del	ENSP00000486609.1:p.Ile263_Tyr265del
NM_001171990.1:c.788_796del	NP_001165461.1:p.Ile263_Tyr265del
NM_153706.3:c.788_796del	NP_714917.2:p.Ile263_Tyr265del
XM_005248425.2:c.710_718del	XP_005248482.1:p.Ile237_Tyr239del
XM_005248426.3:c.356_364del	XP_005248483.1:p.Ile119_Tyr121del
XM_011543139.1:c.692_700del	XP_011541441.1:p.Ile231_Tyr233del
XM_011543140.1:c.560_568del	XP_011541442.1:p.Ile187_Tyr189del
XM_011543141.1:c.560_568del	XP_011541443.1:p.Ile187_Tyr189del
NM_001171990.2:c.788_796del	NP_001165461.1:p.Ile263_Tyr265del
NM_001323018.1:c.710_718del	NP_001309947.1:p.Ile237_Tyr239del
NM_001323022.1:c.332_340del	NP_001309951.1:p.Ile111_Tyr113del
NR_136555.1:n.806_814del
NR_136556.1:n.806_814del
NR_136557.1:n.655_663del
NR_136558.1:n.806_814del
XM_005248426.4:c.356_364del	XP_005248483.1:p.Ile119_Tyr121del
XM_011543139.2:c.692_700del	XP_011541441.1:p.Ile231_Tyr233del
XM_011543140.3:c.560_568del	XP_011541442.1:p.Ile187_Tyr189del
NM_001171990.3:c.788_796del	NP_001165461.1:p.Ile263_Tyr265del
NM_153706.4:c.788_796del MANE Select	NP_714917.2:p.Ile263_Tyr265del
NR_136555.2:n.470_478del
NR_136558.2:n.470_478del
NM_001323018.2:c.710_718del	NP_001309947.1:p.Ile237_Tyr239del
NR_136556.2:n.470_478del