Canonical Allele Identifier: CA2673627545

Gene: LIFR

Linked Data

• gnomAD v4: 5-38481755-GGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.38481759_38481760del , CM000667.2:g.38481759_38481760del	GRCh38
NC_000005.9:g.38481861_38481862del , CM000667.1:g.38481861_38481862del	GRCh37
NC_000005.8:g.38517618_38517619del	NCBI36
NG_011817.1:g.118649_118650del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453190.7:c.3132_3133del MANE Select	ENSP00000398368.2:p.Pro1045Ter
ENST00000263409.8:c.3132_3133del	ENSP00000263409.4:p.Pro1045Ter
ENST00000453190.6:c.3132_3133del	ENSP00000398368.2:p.Pro1045Ter
NM_001127671.1:c.3132_3133del	NP_001121143.1:p.Pro1045Ter
NM_002310.5:c.3132_3133del	NP_002301.1:p.Pro1045Ter
XM_011514040.1:c.3132_3133del	XP_011512342.1:p.Pro1045Ter
XM_011514041.1:c.3132_3133del	XP_011512343.1:p.Pro1045Ter
XM_011514042.1:c.3132_3133del	XP_011512344.1:p.Pro1045Ter
NM_001364297.1:c.3132_3133del	NP_001351226.1:p.Pro1045Ter
NM_001364298.1:c.3099_3100del	NP_001351227.1:p.Pro1034Ter
XM_011514042.3:c.3132_3133del	XP_011512344.1:p.Pro1045Ter
XM_017009462.1:c.3186_3187del	XP_016864951.1:p.Pro1063Ter
XM_017009463.1:c.3132_3133del	XP_016864952.1:p.Pro1045Ter
NM_001127671.2:c.3132_3133del MANE Select	NP_001121143.1:p.Pro1045Ter
NM_002310.6:c.3132_3133del	NP_002301.1:p.Pro1045Ter
NM_001364297.2:c.3132_3133del	NP_001351226.1:p.Pro1045Ter
NM_001364298.2:c.3099_3100del	NP_001351227.1:p.Pro1034Ter