Canonical Allele Identifier: CA10620404

Gene: LIFR

Linked Data

• ClinVar Variation Id: 353566
• ClinVar RCV Id: RCV000340211
• dbSNP Id: rs540513218
• gnomAD v2: 5-38478706-TAAATA-T
• gnomAD v3: 5-38478604-TAAATA-T
• gnomAD v4: 5-38478604-TAAATA-T
• MyVariant Identifiers: chr5:g.38478707_38478711del (hg19) ; chr5:g.38478605_38478609del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.38478610_38478614del , CM000667.2:g.38478610_38478614del	GRCh38
NC_000005.9:g.38478712_38478716del , CM000667.1:g.38478712_38478716del	GRCh37
NC_000005.8:g.38514469_38514473del	NCBI36
NG_011817.1:g.121797_121801del

Transcript Alleles

HGVS	Amino-acid change
ENST00000453190.7:c.*2986_*2990del MANE Select	ENSP00000398368.2:n.*2986_*2990del
ENST00000263409.8:c.*2986_*2990del	ENSP00000263409.4:n.*2986_*2990del
NM_001127671.1:c.*2986_*2990del	NP_001121143.1:n.*2986_*2990del
NM_002310.5:c.*2986_*2990del	NP_002301.1:n.*2986_*2990del
XM_011514040.1:c.*2986_*2990del	XP_011512342.1:n.*2986_*2990del
XM_011514041.1:c.*2986_*2990del	XP_011512343.1:n.*2986_*2990del
XM_011514042.1:c.*2986_*2990del	XP_011512344.1:n.*2986_*2990del
NM_001364297.1:c.*2986_*2990del	NP_001351226.1:n.*2986_*2990del
NM_001364298.1:c.*2986_*2990del	NP_001351227.1:n.*2986_*2990del
XM_011514042.3:c.*2986_*2990del	XP_011512344.1:n.*2986_*2990del
XM_017009462.1:c.*2986_*2990del	XP_016864951.1:n.*2986_*2990del
XM_017009463.1:c.*2986_*2990del	XP_016864952.1:n.*2986_*2990del
NM_001127671.2:c.*2986_*2990del MANE Select	NP_001121143.1:n.*2986_*2990del
NM_002310.6:c.*2986_*2990del	NP_002301.1:n.*2986_*2990del
NM_001364297.2:c.*2986_*2990del	NP_001351226.1:n.*2986_*2990del
NM_001364298.2:c.*2986_*2990del	NP_001351227.1:n.*2986_*2990del