Canonical Allele Identifier: CA2720612208
Gene: TLR4 HGNC NCBI

Linked Data

dbSNP Id: rs2131172150

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.117713781_117713782del , CM000671.2:g.117713781_117713782del GRCh38
NC_000009.11:g.120476059_120476060del , CM000671.1:g.120476059_120476060del GRCh37
NC_000009.10:g.119515880_119515881del NCBI36
NG_011475.1:g.14600_14601del
NG_011475.2:g.14379_14380del

Transcript Alleles

HGVS Amino-acid Change
ENST00000646089.2:c.93+9216_93+9217del ENSP00000496197.1:n.93+9216_93+9217del
ENST00000697624.1:n.200+9216_200+9217del
ENST00000697625.1:c.93+9216_93+9217del ENSP00000513362.1:n.93+9216_93+9217del
ENST00000697636.1:c.93+9216_93+9217del ENSP00000513366.1:n.93+9216_93+9217del
ENST00000697637.1:c.93+9216_93+9217del ENSP00000513367.1:n.93+9216_93+9217del
ENST00000697664.1:c.140+5052_140+5053del ENSP00000513389.1:n.140+5052_140+5053del
ENST00000697665.1:c.93+9216_93+9217del ENSP00000513390.1:n.93+9216_93+9217del
ENST00000697666.1:c.140+5052_140+5053del ENSP00000513391.1:n.140+5052_140+5053del
ENST00000355622.8:c.1653_1654del MANE Select ENSP00000363089.5:p.Tyr551Ter
ENST00000394487.5:c.1533_1534del ENSP00000377997.4:p.Tyr511Ter
ENST00000472304.2:c.*1387_*1388del ENSP00000496429.1:n.*1387_*1388del
ENST00000642985.1:c.260+5052_260+5053del ENSP00000493686.1:n.260+5052_260+5053del
ENST00000646089.1:c.93+9216_93+9217del ENSP00000496197.1:n.93+9216_93+9217del
ENST00000665764.1:c.93+9216_93+9217del ENSP00000499745.1:n.93+9216_93+9217del
ENST00000355622.6:c.1653_1654del ENSP00000363089.5:p.Tyr551Ter
ENST00000394487.4:c.1533_1534del ENSP00000377997.4:p.Tyr511Ter
ENST00000472304.1:n.1570_1571del
NM_003266.3:c.1533_1534del NP_003257.1:p.Tyr511Ter
NM_138554.4:c.1653_1654del NP_612564.1:p.Tyr551Ter
NM_138557.2:c.1053_1054del NP_612567.1:p.Tyr351Ter
NM_138554.5:c.1653_1654del MANE Select NP_612564.1:p.Tyr551Ter
NM_003266.4:c.1533_1534del NP_003257.1:p.Tyr511Ter
NM_138557.3:c.1053_1054del NP_612567.1:p.Tyr351Ter