Canonical Allele Identifier: CA645555771
Gene: TLR4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.117713041_117713044del , CM000671.2:g.117713041_117713044del GRCh38
NC_000009.11:g.120475319_120475322del , CM000671.1:g.120475319_120475322del GRCh37
NC_000009.10:g.119515140_119515143del NCBI36
NG_011475.1:g.13860_13863del
NG_011475.2:g.13639_13642del

Transcript Alleles

HGVS Amino-acid Change
ENST00000646089.2:c.93+8476_93+8479del ENSP00000496197.1:n.93+8476_93+8479del
ENST00000697624.1:n.200+8476_200+8479del
ENST00000697625.1:c.93+8476_93+8479del ENSP00000513362.1:n.93+8476_93+8479del
ENST00000697636.1:c.93+8476_93+8479del ENSP00000513366.1:n.93+8476_93+8479del
ENST00000697637.1:c.93+8476_93+8479del ENSP00000513367.1:n.93+8476_93+8479del
ENST00000697664.1:c.140+4312_140+4315del ENSP00000513389.1:n.140+4312_140+4315del
ENST00000697665.1:c.93+8476_93+8479del ENSP00000513390.1:n.93+8476_93+8479del
ENST00000697666.1:c.140+4312_140+4315del ENSP00000513391.1:n.140+4312_140+4315del
ENST00000355622.8:c.913_916del MANE Select ENSP00000363089.5:p.Asn305ValfsTer2
ENST00000394487.5:c.793_796del ENSP00000377997.4:p.Asn265ValfsTer2
ENST00000472304.2:c.*647_*650del ENSP00000496429.1:n.*647_*650del
ENST00000642985.1:c.260+4312_260+4315del ENSP00000493686.1:n.260+4312_260+4315del
ENST00000646089.1:c.93+8476_93+8479del ENSP00000496197.1:n.93+8476_93+8479del
ENST00000665764.1:c.93+8476_93+8479del ENSP00000499745.1:n.93+8476_93+8479del
ENST00000355622.6:c.913_916del ENSP00000363089.5:p.Asn305ValfsTer2
ENST00000394487.4:c.793_796del ENSP00000377997.4:p.Asn265ValfsTer2
ENST00000472304.1:n.830_833del
NM_003266.3:c.793_796del NP_003257.1:p.Asn265ValfsTer2
NM_138554.4:c.913_916del NP_612564.1:p.Asn305ValfsTer2
NM_138557.2:c.313_316del NP_612567.1:p.Asn105ValfsTer2
NM_138554.5:c.913_916del MANE Select NP_612564.1:p.Asn305ValfsTer2
NM_003266.4:c.793_796del NP_003257.1:p.Asn265ValfsTer2
NM_138557.3:c.313_316del NP_612567.1:p.Asn105ValfsTer2