Canonical Allele Identifier: CA697948661

Gene: LHFPL6

Linked Data

• dbSNP Id: rs1475239158
• gnomAD v3: 13-39329139-A-AC
• gnomAD v4: 13-39329139-A-AC
• MyVariant Identifiers: chr13:g.39903276_39903277insC (hg19) ; chr13:g.39329139_39329140insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.39329140dup , CM000675.2:g.39329140dup	GRCh38
NC_000013.10:g.39903277dup , CM000675.1:g.39903277dup	GRCh37
NC_000013.9:g.38801277dup	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000648377.1:c.*82+14714dup	ENSP00000496801.1:n.*82+14714dup
XR_001749845.1:n.1449+7131dup