Canonical Allele Identifier: CA10603880

Gene: LIFR

Linked Data

• ClinVar Variation Id: 281444
• ClinVar RCV Id: RCV000348821 ; RCV000761445 ; RCV000790750
• dbSNP Id: rs886042160
• gnomAD v4: 5-38511872-C-CA
• MyVariant Identifiers: chr5:g.38511975dupA (hg19) ; chr5:g.38511873dupA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.38511873dup , CM000667.2:g.38511873dup	GRCh38
NC_000005.9:g.38511975dup , CM000667.1:g.38511975dup	GRCh37
NC_000005.8:g.38547732dup	NCBI36
NG_011817.1:g.88533dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000453190.7:c.653dup MANE Select	ENSP00000398368.2:p.Glu219GlyfsTer3
ENST00000263409.8:c.653dup	ENSP00000263409.4:p.Glu219GlyfsTer3
ENST00000453190.6:c.653dup	ENSP00000398368.2:p.Glu219GlyfsTer3
ENST00000503088.1:n.816dup
NM_001127671.1:c.653dup	NP_001121143.1:p.Glu219GlyfsTer3
NM_002310.5:c.653dup	NP_002301.1:p.Glu219GlyfsTer3
XM_011514040.1:c.653dup	XP_011512342.1:p.Glu219GlyfsTer3
XM_011514041.1:c.653dup	XP_011512343.1:p.Glu219GlyfsTer3
XM_011514042.1:c.653dup	XP_011512344.1:p.Glu219GlyfsTer3
NM_001364297.1:c.653dup	NP_001351226.1:p.Glu219GlyfsTer3
NM_001364298.1:c.653dup	NP_001351227.1:p.Glu219GlyfsTer3
XM_011514042.3:c.653dup	XP_011512344.1:p.Glu219GlyfsTer3
XM_017009462.1:c.707dup	XP_016864951.1:p.Glu237GlyfsTer3
XM_017009463.1:c.653dup	XP_016864952.1:p.Glu219GlyfsTer3
NM_001127671.2:c.653dup MANE Select	NP_001121143.1:p.Glu219GlyfsTer3
NM_002310.6:c.653dup	NP_002301.1:p.Glu219GlyfsTer3
NM_001364297.2:c.653dup	NP_001351226.1:p.Glu219GlyfsTer3
NM_001364298.2:c.653dup	NP_001351227.1:p.Glu219GlyfsTer3