Canonical Allele Identifier: CA2673627544

Gene: LIFR

Linked Data

• gnomAD v4: 5-38481737-TTGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.38481740_38481742del , CM000667.2:g.38481740_38481742del	GRCh38
NC_000005.9:g.38481842_38481844del , CM000667.1:g.38481842_38481844del	GRCh37
NC_000005.8:g.38517599_38517601del	NCBI36
NG_011817.1:g.118666_118668del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453190.7:c.3149_3151del MANE Select	ENSP00000398368.2:p.Ser1050del
ENST00000263409.8:c.3149_3151del	ENSP00000263409.4:p.Ser1050del
ENST00000453190.6:c.3149_3151del	ENSP00000398368.2:p.Ser1050del
NM_001127671.1:c.3149_3151del	NP_001121143.1:p.Ser1050del
NM_002310.5:c.3149_3151del	NP_002301.1:p.Ser1050del
XM_011514040.1:c.3149_3151del	XP_011512342.1:p.Ser1050del
XM_011514041.1:c.3149_3151del	XP_011512343.1:p.Ser1050del
XM_011514042.1:c.3149_3151del	XP_011512344.1:p.Ser1050del
NM_001364297.1:c.3149_3151del	NP_001351226.1:p.Ser1050del
NM_001364298.1:c.3116_3118del	NP_001351227.1:p.Ser1039del
XM_011514042.3:c.3149_3151del	XP_011512344.1:p.Ser1050del
XM_017009462.1:c.3203_3205del	XP_016864951.1:p.Ser1068del
XM_017009463.1:c.3149_3151del	XP_016864952.1:p.Ser1050del
NM_001127671.2:c.3149_3151del MANE Select	NP_001121143.1:p.Ser1050del
NM_002310.6:c.3149_3151del	NP_002301.1:p.Ser1050del
NM_001364297.2:c.3149_3151del	NP_001351226.1:p.Ser1050del
NM_001364298.2:c.3116_3118del	NP_001351227.1:p.Ser1039del