Canonical Allele Identifier: CA2691423530

Gene: TLR4

Linked Data

• gnomAD v4: 9-117713801-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.117713803del , CM000671.2:g.117713803del	GRCh38
NC_000009.11:g.120476081del , CM000671.1:g.120476081del	GRCh37
NC_000009.10:g.119515902del	NCBI36
NG_011475.1:g.14622del
NG_011475.2:g.14401del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646089.2:c.93+9238del	ENSP00000496197.1:n.93+9238del
ENST00000697624.1:n.200+9238del
ENST00000697625.1:c.93+9238del	ENSP00000513362.1:n.93+9238del
ENST00000697636.1:c.93+9238del	ENSP00000513366.1:n.93+9238del
ENST00000697637.1:c.93+9238del	ENSP00000513367.1:n.93+9238del
ENST00000697664.1:c.140+5074del	ENSP00000513389.1:n.140+5074del
ENST00000697665.1:c.93+9238del	ENSP00000513390.1:n.93+9238del
ENST00000697666.1:c.140+5074del	ENSP00000513391.1:n.140+5074del
ENST00000355622.8:c.1675del MANE Select	ENSP00000363089.5:p.Ser559ProfsTer13
ENST00000394487.5:c.1555del	ENSP00000377997.4:p.Ser519ProfsTer13
ENST00000472304.2:c.*1409del	ENSP00000496429.1:n.*1409del
ENST00000642985.1:c.260+5074del	ENSP00000493686.1:n.260+5074del
ENST00000646089.1:c.93+9238del	ENSP00000496197.1:n.93+9238del
ENST00000665764.1:c.93+9238del	ENSP00000499745.1:n.93+9238del
ENST00000355622.6:c.1675del	ENSP00000363089.5:p.Ser559ProfsTer13
ENST00000394487.4:c.1555del	ENSP00000377997.4:p.Ser519ProfsTer13
ENST00000472304.1:n.1592del
NM_003266.3:c.1555del	NP_003257.1:p.Ser519ProfsTer13
NM_138554.4:c.1675del	NP_612564.1:p.Ser559ProfsTer13
NM_138557.2:c.1075del	NP_612567.1:p.Ser359ProfsTer13
NM_138554.5:c.1675del MANE Select	NP_612564.1:p.Ser559ProfsTer13
NM_003266.4:c.1555del	NP_003257.1:p.Ser519ProfsTer13
NM_138557.3:c.1075del	NP_612567.1:p.Ser359ProfsTer13