Canonical Allele Identifier: CA918544670
Gene: TLR4 HGNC NCBI

Linked Data

dbSNP Id: rs1564266451

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.117713773_117713774del , CM000671.2:g.117713773_117713774del GRCh38
NC_000009.11:g.120476051_120476052del , CM000671.1:g.120476051_120476052del GRCh37
NC_000009.10:g.119515872_119515873del NCBI36
NG_011475.1:g.14592_14593del
NG_011475.2:g.14371_14372del

Transcript Alleles

HGVS Amino-acid Change
ENST00000646089.2:c.93+9208_93+9209del ENSP00000496197.1:n.93+9208_93+9209del
ENST00000697624.1:n.200+9208_200+9209del
ENST00000697625.1:c.93+9208_93+9209del ENSP00000513362.1:n.93+9208_93+9209del
ENST00000697636.1:c.93+9208_93+9209del ENSP00000513366.1:n.93+9208_93+9209del
ENST00000697637.1:c.93+9208_93+9209del ENSP00000513367.1:n.93+9208_93+9209del
ENST00000697664.1:c.140+5044_140+5045del ENSP00000513389.1:n.140+5044_140+5045del
ENST00000697665.1:c.93+9208_93+9209del ENSP00000513390.1:n.93+9208_93+9209del
ENST00000697666.1:c.140+5044_140+5045del ENSP00000513391.1:n.140+5044_140+5045del
ENST00000355622.8:c.1645_1646del MANE Select ENSP00000363089.5:p.Leu549Ter
ENST00000394487.5:c.1525_1526del ENSP00000377997.4:p.Leu509Ter
ENST00000472304.2:c.*1379_*1380del ENSP00000496429.1:n.*1379_*1380del
ENST00000642985.1:c.260+5044_260+5045del ENSP00000493686.1:n.260+5044_260+5045del
ENST00000646089.1:c.93+9208_93+9209del ENSP00000496197.1:n.93+9208_93+9209del
ENST00000665764.1:c.93+9208_93+9209del ENSP00000499745.1:n.93+9208_93+9209del
ENST00000355622.6:c.1645_1646del ENSP00000363089.5:p.Leu549Ter
ENST00000394487.4:c.1525_1526del ENSP00000377997.4:p.Leu509Ter
ENST00000472304.1:n.1562_1563del
NM_003266.3:c.1525_1526del NP_003257.1:p.Leu509Ter
NM_138554.4:c.1645_1646del NP_612564.1:p.Leu549Ter
NM_138557.2:c.1045_1046del NP_612567.1:p.Leu349Ter
NM_138554.5:c.1645_1646del MANE Select NP_612564.1:p.Leu549Ter
NM_003266.4:c.1525_1526del NP_003257.1:p.Leu509Ter
NM_138557.3:c.1045_1046del NP_612567.1:p.Leu349Ter