Canonical Allele Identifier: CA2499217849

Gene: LIFR

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.38489088_38489089dup , CM000667.2:g.38489088_38489089dup	GRCh38
NC_000005.9:g.38489190_38489191dup , CM000667.1:g.38489190_38489191dup	GRCh37
NC_000005.8:g.38524947_38524948dup	NCBI36
NG_011817.1:g.111319_111320dup

Transcript Alleles

HGVS	Amino-acid Change
NM_001127671.2:c.2326_2327dup MANE Select	NP_001121143.1:p.Leu776PhefsTer2
ENST00000453190.7:c.2326_2327dup MANE Select	ENSP00000398368.2:p.Leu776PhefsTer2
NM_001127671.1:c.2326_2327dup	NP_001121143.1:p.Leu776PhefsTer2
NM_001364297.1:c.2326_2327dup	NP_001351226.1:p.Leu776PhefsTer2
NM_001364297.2:c.2326_2327dup	NP_001351226.1:p.Leu776PhefsTer2
NM_001364298.1:c.2326_2327dup	NP_001351227.1:p.Leu776PhefsTer2
NM_001364298.2:c.2326_2327dup	NP_001351227.1:p.Leu776PhefsTer2
NM_002310.5:c.2326_2327dup	NP_002301.1:p.Leu776PhefsTer2
NM_002310.6:c.2326_2327dup	NP_002301.1:p.Leu776PhefsTer2
ENST00000263409.8:c.2326_2327dup	ENSP00000263409.4:p.Leu776PhefsTer2
ENST00000453190.6:c.2326_2327dup	ENSP00000398368.2:p.Leu776PhefsTer2
ENST00000506003.5:c.704_705dup
ENST00000508477.5:n.159_160dup
XM_011514040.1:c.2326_2327dup	XP_011512342.1:p.Leu776PhefsTer2
XM_011514041.1:c.2326_2327dup	XP_011512343.1:p.Leu776PhefsTer2
XM_011514042.1:c.2326_2327dup	XP_011512344.1:p.Leu776PhefsTer2
XM_011514042.3:c.2326_2327dup	XP_011512344.1:p.Leu776PhefsTer2
XM_017009462.1:c.2380_2381dup	XP_016864951.1:p.Leu794PhefsTer2
XM_017009463.1:c.2326_2327dup	XP_016864952.1:p.Leu776PhefsTer2