Canonical Allele Identifier: CA1875354604
Gene: TLR4 HGNC NCBI

Linked Data

dbSNP Id: rs1829282894

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.117713593_117713594del , CM000671.2:g.117713593_117713594del GRCh38
NC_000009.11:g.120475871_120475872del , CM000671.1:g.120475871_120475872del GRCh37
NC_000009.10:g.119515692_119515693del NCBI36
NG_011475.1:g.14412_14413del
NG_011475.2:g.14191_14192del

Transcript Alleles

HGVS Amino-acid Change
ENST00000646089.2:c.93+9028_93+9029del ENSP00000496197.1:n.93+9028_93+9029del
ENST00000697624.1:n.200+9028_200+9029del
ENST00000697625.1:c.93+9028_93+9029del ENSP00000513362.1:n.93+9028_93+9029del
ENST00000697636.1:c.93+9028_93+9029del ENSP00000513366.1:n.93+9028_93+9029del
ENST00000697637.1:c.93+9028_93+9029del ENSP00000513367.1:n.93+9028_93+9029del
ENST00000697664.1:c.140+4864_140+4865del ENSP00000513389.1:n.140+4864_140+4865del
ENST00000697665.1:c.93+9028_93+9029del ENSP00000513390.1:n.93+9028_93+9029del
ENST00000697666.1:c.140+4864_140+4865del ENSP00000513391.1:n.140+4864_140+4865del
ENST00000355622.8:c.1465_1466del MANE Select ENSP00000363089.5:p.Pro489ArgfsTer28
ENST00000394487.5:c.1345_1346del ENSP00000377997.4:p.Pro449ArgfsTer28
ENST00000472304.2:c.*1199_*1200del ENSP00000496429.1:n.*1199_*1200del
ENST00000642985.1:c.260+4864_260+4865del ENSP00000493686.1:n.260+4864_260+4865del
ENST00000646089.1:c.93+9028_93+9029del ENSP00000496197.1:n.93+9028_93+9029del
ENST00000665764.1:c.93+9028_93+9029del ENSP00000499745.1:n.93+9028_93+9029del
ENST00000355622.6:c.1465_1466del ENSP00000363089.5:p.Pro489ArgfsTer28
ENST00000394487.4:c.1345_1346del ENSP00000377997.4:p.Pro449ArgfsTer28
ENST00000472304.1:n.1382_1383del
NM_003266.3:c.1345_1346del NP_003257.1:p.Pro449ArgfsTer28
NM_138554.4:c.1465_1466del NP_612564.1:p.Pro489ArgfsTer28
NM_138557.2:c.865_866del NP_612567.1:p.Pro289ArgfsTer28
NM_138554.5:c.1465_1466del MANE Select NP_612564.1:p.Pro489ArgfsTer28
NM_003266.4:c.1345_1346del NP_003257.1:p.Pro449ArgfsTer28
NM_138557.3:c.865_866del NP_612567.1:p.Pro289ArgfsTer28