Canonical Allele Identifier: CA590501315

Gene: TLR4

Linked Data

• dbSNP Id: rs1265925328
• gnomAD v2: 9-120476008-AT-A
• gnomAD v4: 9-117713730-AT-A
• MyVariant Identifiers: chr9:g.120476009del (hg19) ; chr9:g.117713731del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.117713732del , CM000671.2:g.117713732del	GRCh38
NC_000009.11:g.120476010del , CM000671.1:g.120476010del	GRCh37
NC_000009.10:g.119515831del	NCBI36
NG_011475.1:g.14551del
NG_011475.2:g.14330del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646089.2:c.93+9167del	ENSP00000496197.1:n.93+9167del
ENST00000697624.1:n.200+9167del
ENST00000697625.1:c.93+9167del	ENSP00000513362.1:n.93+9167del
ENST00000697636.1:c.93+9167del	ENSP00000513366.1:n.93+9167del
ENST00000697637.1:c.93+9167del	ENSP00000513367.1:n.93+9167del
ENST00000697664.1:c.140+5003del	ENSP00000513389.1:n.140+5003del
ENST00000697665.1:c.93+9167del	ENSP00000513390.1:n.93+9167del
ENST00000697666.1:c.140+5003del	ENSP00000513391.1:n.140+5003del
ENST00000355622.8:c.1604del MANE Select	ENSP00000363089.5:p.Leu535TrpfsTer9
ENST00000394487.5:c.1484del	ENSP00000377997.4:p.Leu495TrpfsTer9
ENST00000472304.2:c.*1338del	ENSP00000496429.1:n.*1338del
ENST00000642985.1:c.260+5003del	ENSP00000493686.1:n.260+5003del
ENST00000646089.1:c.93+9167del	ENSP00000496197.1:n.93+9167del
ENST00000665764.1:c.93+9167del	ENSP00000499745.1:n.93+9167del
ENST00000355622.6:c.1604del	ENSP00000363089.5:p.Leu535TrpfsTer9
ENST00000394487.4:c.1484del	ENSP00000377997.4:p.Leu495TrpfsTer9
ENST00000472304.1:n.1521del
NM_003266.3:c.1484del	NP_003257.1:p.Leu495TrpfsTer9
NM_138554.4:c.1604del	NP_612564.1:p.Leu535TrpfsTer9
NM_138557.2:c.1004del	NP_612567.1:p.Leu335TrpfsTer9
NM_138554.5:c.1604del MANE Select	NP_612564.1:p.Leu535TrpfsTer9
NM_003266.4:c.1484del	NP_003257.1:p.Leu495TrpfsTer9
NM_138557.3:c.1004del	NP_612567.1:p.Leu335TrpfsTer9