Canonical Allele Identifier: CA3242822

Gene: LIFR

Linked Data

• dbSNP Id: rs746959285
• ExAC: 5:38496451 GTTC / G
• gnomAD v2: 5-38496451-GTTC-G
• gnomAD v3: 5-38496349-GTTC-G
• gnomAD v4: 5-38496349-GTTC-G
• MyVariant Identifiers: chr5:g.38496452_38496454del (hg19) ; chr5:g.38496350_38496352del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.38496352_38496354del , CM000667.2:g.38496352_38496354del	GRCh38
NC_000005.9:g.38496454_38496456del , CM000667.1:g.38496454_38496456del	GRCh37
NC_000005.8:g.38532211_38532213del	NCBI36
NG_011817.1:g.104054_104056del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453190.7:c.1885+30_1885+32del MANE Select	ENSP00000398368.2:n.1885+30_1885+32del
ENST00000263409.8:c.1885+30_1885+32del	ENSP00000263409.4:n.1885+30_1885+32del
ENST00000453190.6:c.1885+30_1885+32del	ENSP00000398368.2:n.1885+30_1885+32del
ENST00000503088.1:n.2048+30_2048+32del
ENST00000506003.5:c.263+30_263+32del
NM_001127671.1:c.1885+30_1885+32del	NP_001121143.1:n.1885+30_1885+32del
NM_002310.5:c.1885+30_1885+32del	NP_002301.1:n.1885+30_1885+32del
XM_011514040.1:c.1885+30_1885+32del	XP_011512342.1:n.1885+30_1885+32del
XM_011514041.1:c.1885+30_1885+32del	XP_011512343.1:n.1885+30_1885+32del
XM_011514042.1:c.1885+30_1885+32del	XP_011512344.1:n.1885+30_1885+32del
NM_001364297.1:c.1885+30_1885+32del	NP_001351226.1:n.1885+30_1885+32del
NM_001364298.1:c.1885+30_1885+32del	NP_001351227.1:n.1885+30_1885+32del
XM_011514042.3:c.1885+30_1885+32del	XP_011512344.1:n.1885+30_1885+32del
XM_017009462.1:c.1939+30_1939+32del	XP_016864951.1:n.1939+30_1939+32del
XM_017009463.1:c.1885+30_1885+32del	XP_016864952.1:n.1885+30_1885+32del
NM_001127671.2:c.1885+30_1885+32del MANE Select	NP_001121143.1:n.1885+30_1885+32del
NM_002310.6:c.1885+30_1885+32del	NP_002301.1:n.1885+30_1885+32del
NM_001364297.2:c.1885+30_1885+32del	NP_001351226.1:n.1885+30_1885+32del
NM_001364298.2:c.1885+30_1885+32del	NP_001351227.1:n.1885+30_1885+32del