Canonical Allele Identifier: CA5212404

Gene: TLR4

Linked Data

• dbSNP Id: rs776780660
• ExAC: 9:120476054 GAT / G
• gnomAD v2: 9-120476054-GAT-G
• gnomAD v4: 9-117713776-GAT-G
• MyVariant Identifiers: chr9:g.120476055_120476056del (hg19) ; chr9:g.117713777_117713778del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.117713777_117713778del , CM000671.2:g.117713777_117713778del	GRCh38
NC_000009.11:g.120476055_120476056del , CM000671.1:g.120476055_120476056del	GRCh37
NC_000009.10:g.119515876_119515877del	NCBI36
NG_011475.1:g.14596_14597del
NG_011475.2:g.14375_14376del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646089.2:c.93+9212_93+9213del	ENSP00000496197.1:n.93+9212_93+9213del
ENST00000697624.1:n.200+9212_200+9213del
ENST00000697625.1:c.93+9212_93+9213del	ENSP00000513362.1:n.93+9212_93+9213del
ENST00000697636.1:c.93+9212_93+9213del	ENSP00000513366.1:n.93+9212_93+9213del
ENST00000697637.1:c.93+9212_93+9213del	ENSP00000513367.1:n.93+9212_93+9213del
ENST00000697664.1:c.140+5048_140+5049del	ENSP00000513389.1:n.140+5048_140+5049del
ENST00000697665.1:c.93+9212_93+9213del	ENSP00000513390.1:n.93+9212_93+9213del
ENST00000697666.1:c.140+5048_140+5049del	ENSP00000513391.1:n.140+5048_140+5049del
ENST00000355622.8:c.1649_1650del MANE Select	ENSP00000363089.5:p.Asp550ValfsTer20
ENST00000394487.5:c.1529_1530del	ENSP00000377997.4:p.Asp510ValfsTer20
ENST00000472304.2:c.*1383_*1384del	ENSP00000496429.1:n.*1383_*1384del
ENST00000642985.1:c.260+5048_260+5049del	ENSP00000493686.1:n.260+5048_260+5049del
ENST00000646089.1:c.93+9212_93+9213del	ENSP00000496197.1:n.93+9212_93+9213del
ENST00000665764.1:c.93+9212_93+9213del	ENSP00000499745.1:n.93+9212_93+9213del
ENST00000355622.6:c.1649_1650del	ENSP00000363089.5:p.Asp550ValfsTer20
ENST00000394487.4:c.1529_1530del	ENSP00000377997.4:p.Asp510ValfsTer20
ENST00000472304.1:n.1566_1567del
NM_003266.3:c.1529_1530del	NP_003257.1:p.Asp510ValfsTer20
NM_138554.4:c.1649_1650del	NP_612564.1:p.Asp550ValfsTer20
NM_138557.2:c.1049_1050del	NP_612567.1:p.Asp350ValfsTer20
NM_138554.5:c.1649_1650del MANE Select	NP_612564.1:p.Asp550ValfsTer20
NM_003266.4:c.1529_1530del	NP_003257.1:p.Asp510ValfsTer20
NM_138557.3:c.1049_1050del	NP_612567.1:p.Asp350ValfsTer20