Canonical Allele Identifier: CA590501326

Gene: TLR4

Linked Data

• dbSNP Id: rs1398071518
• gnomAD v2: 9-120475813-C-CT
• MyVariant Identifiers: chr9:g.120475813_120475814insT (hg19) ; chr9:g.117713535_117713536insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.117713537dup , CM000671.2:g.117713537dup	GRCh38
NC_000009.11:g.120475815dup , CM000671.1:g.120475815dup	GRCh37
NC_000009.10:g.119515636dup	NCBI36
NG_011475.1:g.14356dup
NG_011475.2:g.14135dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646089.2:c.93+8972dup	ENSP00000496197.1:n.93+8972dup
ENST00000697624.1:n.200+8972dup
ENST00000697625.1:c.93+8972dup	ENSP00000513362.1:n.93+8972dup
ENST00000697636.1:c.93+8972dup	ENSP00000513366.1:n.93+8972dup
ENST00000697637.1:c.93+8972dup	ENSP00000513367.1:n.93+8972dup
ENST00000697664.1:c.140+4808dup	ENSP00000513389.1:n.140+4808dup
ENST00000697665.1:c.93+8972dup	ENSP00000513390.1:n.93+8972dup
ENST00000697666.1:c.140+4808dup	ENSP00000513391.1:n.140+4808dup
ENST00000355622.8:c.1409dup MANE Select	ENSP00000363089.5:p.Leu470PhefsTer?
ENST00000394487.5:c.1289dup	ENSP00000377997.4:p.Leu430PhefsTer?
ENST00000472304.2:c.*1143dup	ENSP00000496429.1:n.*1143dup
ENST00000642985.1:c.260+4808dup	ENSP00000493686.1:n.260+4808dup
ENST00000646089.1:c.93+8972dup	ENSP00000496197.1:n.93+8972dup
ENST00000665764.1:c.93+8972dup	ENSP00000499745.1:n.93+8972dup
ENST00000355622.6:c.1409dup	ENSP00000363089.5:p.Leu470PhefsTer?
ENST00000394487.4:c.1289dup	ENSP00000377997.4:p.Leu430PhefsTer?
ENST00000472304.1:n.1326dup
NM_003266.3:c.1289dup	NP_003257.1:p.Leu430PhefsTer?
NM_138554.4:c.1409dup	NP_612564.1:p.Leu470PhefsTer?
NM_138557.2:c.809dup	NP_612567.1:p.Leu270PhefsTer?
NM_138554.5:c.1409dup MANE Select	NP_612564.1:p.Leu470PhefsTer?
NM_003266.4:c.1289dup	NP_003257.1:p.Leu430PhefsTer?
NM_138557.3:c.809dup	NP_612567.1:p.Leu270PhefsTer?