Canonical Allele Identifier: CA559296114

Gene: LIFR

Linked Data

• dbSNP Id: rs1561142802
• gnomAD v2: 5-38496439-C-CT
• gnomAD v4: 5-38496337-C-CT
• MyVariant Identifiers: chr5:g.38496439_38496440insT (hg19) ; chr5:g.38496337_38496338insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.38496340dup , CM000667.2:g.38496340dup	GRCh38
NC_000005.9:g.38496442dup , CM000667.1:g.38496442dup	GRCh37
NC_000005.8:g.38532199dup	NCBI36
NG_011817.1:g.104068dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453190.7:c.1885+44dup MANE Select	ENSP00000398368.2:n.1885+44dup
ENST00000263409.8:c.1885+44dup	ENSP00000263409.4:n.1885+44dup
ENST00000453190.6:c.1885+44dup	ENSP00000398368.2:n.1885+44dup
ENST00000503088.1:n.2048+44dup
ENST00000506003.5:c.263+44dup
NM_001127671.1:c.1885+44dup	NP_001121143.1:n.1885+44dup
NM_002310.5:c.1885+44dup	NP_002301.1:n.1885+44dup
XM_011514040.1:c.1885+44dup	XP_011512342.1:n.1885+44dup
XM_011514041.1:c.1885+44dup	XP_011512343.1:n.1885+44dup
XM_011514042.1:c.1885+44dup	XP_011512344.1:n.1885+44dup
NM_001364297.1:c.1885+44dup	NP_001351226.1:n.1885+44dup
NM_001364298.1:c.1885+44dup	NP_001351227.1:n.1885+44dup
XM_011514042.3:c.1885+44dup	XP_011512344.1:n.1885+44dup
XM_017009462.1:c.1939+44dup	XP_016864951.1:n.1939+44dup
XM_017009463.1:c.1885+44dup	XP_016864952.1:n.1885+44dup
NM_001127671.2:c.1885+44dup MANE Select	NP_001121143.1:n.1885+44dup
NM_002310.6:c.1885+44dup	NP_002301.1:n.1885+44dup
NM_001364297.2:c.1885+44dup	NP_001351226.1:n.1885+44dup
NM_001364298.2:c.1885+44dup	NP_001351227.1:n.1885+44dup