Canonical Allele Identifier: CA1875354643

Gene: TLR4

Linked Data

• dbSNP Id: rs1829283751
• gnomAD v4: 9-117713634-CCTCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.117713638_117713641del , CM000671.2:g.117713638_117713641del	GRCh38
NC_000009.11:g.120475916_120475919del , CM000671.1:g.120475916_120475919del	GRCh37
NC_000009.10:g.119515737_119515740del	NCBI36
NG_011475.1:g.14457_14460del
NG_011475.2:g.14236_14239del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646089.2:c.93+9073_93+9076del	ENSP00000496197.1:n.93+9073_93+9076del
ENST00000697624.1:n.200+9073_200+9076del
ENST00000697625.1:c.93+9073_93+9076del	ENSP00000513362.1:n.93+9073_93+9076del
ENST00000697636.1:c.93+9073_93+9076del	ENSP00000513366.1:n.93+9073_93+9076del
ENST00000697637.1:c.93+9073_93+9076del	ENSP00000513367.1:n.93+9073_93+9076del
ENST00000697664.1:c.140+4909_140+4912del	ENSP00000513389.1:n.140+4909_140+4912del
ENST00000697665.1:c.93+9073_93+9076del	ENSP00000513390.1:n.93+9073_93+9076del
ENST00000697666.1:c.140+4909_140+4912del	ENSP00000513391.1:n.140+4909_140+4912del
ENST00000355622.8:c.1510_1513del MANE Select	ENSP00000363089.5:p.Gln505ValfsTer20
ENST00000394487.5:c.1390_1393del	ENSP00000377997.4:p.Gln465ValfsTer20
ENST00000472304.2:c.*1244_*1247del	ENSP00000496429.1:n.*1244_*1247del
ENST00000642985.1:c.260+4909_260+4912del	ENSP00000493686.1:n.260+4909_260+4912del
ENST00000646089.1:c.93+9073_93+9076del	ENSP00000496197.1:n.93+9073_93+9076del
ENST00000665764.1:c.93+9073_93+9076del	ENSP00000499745.1:n.93+9073_93+9076del
ENST00000355622.6:c.1510_1513del	ENSP00000363089.5:p.Gln505ValfsTer20
ENST00000394487.4:c.1390_1393del	ENSP00000377997.4:p.Gln465ValfsTer20
ENST00000472304.1:n.1427_1430del
NM_003266.3:c.1390_1393del	NP_003257.1:p.Gln465ValfsTer20
NM_138554.4:c.1510_1513del	NP_612564.1:p.Gln505ValfsTer20
NM_138557.2:c.910_913del	NP_612567.1:p.Gln305ValfsTer20
NM_138554.5:c.1510_1513del MANE Select	NP_612564.1:p.Gln505ValfsTer20
NM_003266.4:c.1390_1393del	NP_003257.1:p.Gln465ValfsTer20
NM_138557.3:c.910_913del	NP_612567.1:p.Gln305ValfsTer20