Canonical Allele Identifier: CA2573052683

Gene: LHFPL5

Linked Data

• ClinVar Variation Id: 1185612
• ClinVar RCV Id: RCV001823221
• dbSNP Id: rs2151070794

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35814595_35814605dup , CM000668.2:g.35814595_35814605dup	GRCh38
NC_000006.11:g.35782372_35782382dup , CM000668.1:g.35782372_35782382dup	GRCh37
NC_000006.10:g.35890350_35890360dup	NCBI36
NG_012184.1:g.14302_14312dup
NG_012184.2:g.14302_14312dup
NG_012184.3:g.22390_22400dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.462_472dup MANE Select	ENSP00000353346.1:p.Arg158GlnfsTer?
ENST00000496656.2:n.241_251dup
ENST00000651132.1:c.462_472dup	ENSP00000498322.1:p.Arg158GlnfsTer?
ENST00000651676.1:c.462_472dup	ENSP00000498699.1:p.Arg158GlnfsTer?
ENST00000651994.1:c.*70-4842_*70-4832dup	ENSP00000498310.1:n.*70-4842_*70-4832dup
ENST00000652718.1:c.294_304dup	ENSP00000498866.1:p.Arg102GlnfsTer?
ENST00000360215.2:c.462_472dup	ENSP00000353346.1:p.Arg158GlnfsTer?
ENST00000496656.1:n.241_251dup
NM_182548.3:c.462_472dup	NP_872354.1:p.Arg158GlnfsTer?
XM_011514403.1:c.462_472dup	XP_011512705.1:p.Arg158GlnfsTer?
NM_182548.4:c.462_472dup MANE Select	NP_872354.1:p.Arg158GlnfsTer?