Canonical Allele Identifier: CA2670341211

Gene: TLR1

Linked Data

• gnomAD v4: 4-38798123-G-GAATAC

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.38798124_38798128dup , CM000666.2:g.38798124_38798128dup	GRCh38
NC_000004.11:g.38799745_38799749dup , CM000666.1:g.38799745_38799749dup	GRCh37
NC_000004.10:g.38476140_38476144dup	NCBI36
NG_016228.1:g.11664_11668dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308979.7:c.704_708dup MANE Select	ENSP00000354932.2:p.Leu237ValfsTer17
ENST00000308979.6:c.704_708dup	ENSP00000354932.2:p.Leu237ValfsTer17
ENST00000502213.6:c.704_708dup	ENSP00000421259.1:p.Leu237ValfsTer17
ENST00000505744.5:n.235+2729_235+2733dup
NM_003263.3:c.704_708dup	NP_003254.2:p.Leu237ValfsTer17
XM_005262662.3:c.704_708dup	XP_005262719.1:p.Leu237ValfsTer17
XM_006714028.2:c.704_708dup	XP_006714091.1:p.Leu237ValfsTer17
XM_011513742.1:c.704_708dup	XP_011512044.1:p.Leu237ValfsTer17
XM_011513743.1:c.704_708dup	XP_011512045.1:p.Leu237ValfsTer17
XM_011513744.1:c.704_708dup	XP_011512046.1:p.Leu237ValfsTer17
XM_011513745.1:c.704_708dup	XP_011512047.1:p.Leu237ValfsTer17
XR_925162.1:n.978_982dup
XR_925163.1:n.978_982dup
XR_925165.1:n.978_982dup
XM_005262662.5:c.704_708dup	XP_005262719.1:p.Leu237ValfsTer17
XM_011513742.3:c.704_708dup	XP_011512044.1:p.Leu237ValfsTer17
XM_011513745.3:c.704_708dup	XP_011512047.1:p.Leu237ValfsTer17
XM_017008571.2:c.704_708dup	XP_016864060.1:p.Leu237ValfsTer17
XM_017008572.2:c.704_708dup	XP_016864061.1:p.Leu237ValfsTer17
XM_024454196.1:c.704_708dup	XP_024309964.1:p.Leu237ValfsTer17
XM_024454197.1:c.704_708dup	XP_024309965.1:p.Leu237ValfsTer17
XM_024454198.1:c.704_708dup	XP_024309966.1:p.Leu237ValfsTer17
XM_024454199.1:c.205+2729_205+2733dup	XP_024309967.1:n.205+2729_205+2733dup
XR_925163.2:n.978_982dup
XR_925165.2:n.978_982dup
NM_003263.4:c.704_708dup MANE Select	NP_003254.2:p.Leu237ValfsTer17