Canonical Allele Identifier: CA2550295104
Gene: LIFR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.38485821_38485822insC , CM000667.2:g.38485821_38485822insC GRCh38
NC_000005.9:g.38485923_38485924insC , CM000667.1:g.38485923_38485924insC GRCh37
NC_000005.8:g.38521680_38521681insC NCBI36
NG_011817.1:g.114584_114585insG

Transcript Alleles

HGVS Amino-acid change
ENST00000453190.7:c.2494_2495insG MANE Select ENSP00000398368.2:p.Asn832ArgfsTer?
ENST00000263409.8:c.2494_2495insG ENSP00000263409.4:p.Asn832ArgfsTer?
ENST00000453190.6:c.2494_2495insG ENSP00000398368.2:p.Asn832ArgfsTer?
ENST00000508477.5:n.327_328insG
NM_001127671.1:c.2494_2495insG NP_001121143.1:p.Asn832ArgfsTer?
NM_002310.5:c.2494_2495insG NP_002301.1:p.Asn832ArgfsTer?
XM_011514040.1:c.2494_2495insG XP_011512342.1:p.Asn832ArgfsTer?
XM_011514041.1:c.2494_2495insG XP_011512343.1:p.Asn832ArgfsTer?
XM_011514042.1:c.2494_2495insG XP_011512344.1:p.Asn832ArgfsTer?
NM_001364297.1:c.2494_2495insG NP_001351226.1:p.Asn832ArgfsTer?
NM_001364298.1:c.2494_2495insG NP_001351227.1:p.Asn832ArgfsTer24
XM_011514042.3:c.2494_2495insG XP_011512344.1:p.Asn832ArgfsTer?
XM_017009462.1:c.2548_2549insG XP_016864951.1:p.Asn850ArgfsTer?
XM_017009463.1:c.2494_2495insG XP_016864952.1:p.Asn832ArgfsTer?
NM_001127671.2:c.2494_2495insG MANE Select NP_001121143.1:p.Asn832ArgfsTer?
NM_002310.6:c.2494_2495insG NP_002301.1:p.Asn832ArgfsTer?
NM_001364297.2:c.2494_2495insG NP_001351226.1:p.Asn832ArgfsTer?
NM_001364298.2:c.2494_2495insG NP_001351227.1:p.Asn832ArgfsTer24