Canonical Allele Identifier: CA566493583

Gene: LHFPL5

Linked Data

• dbSNP Id: rs34179633
• gnomAD v2: 6-35765259-C-CGT
• gnomAD v3: 6-35797482-C-CGT
• gnomAD v4: 6-35797482-C-CGT
• MyVariant Identifiers: chr6:g.35765271_35765272insGT (hg19) ; chr6:g.35765259_35765260insGT (hg19) ; chr6:g.35797494_35797495insGT (hg38) ; chr6:g.35797482_35797483insGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35797521_35797522dup , CM000668.2:g.35797521_35797522dup	GRCh38
NC_000006.11:g.35765298_35765299dup , CM000668.1:g.35765298_35765299dup	GRCh37
NC_000006.10:g.35873276_35873277dup	NCBI36
NG_012184.3:g.5316_5317dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651132.1:c.-255+62_-255+63dup	ENSP00000498322.1:n.-255+62_-255+63dup
XM_011514403.1:c.-135+62_-135+63dup	XP_011512705.1:n.-135+62_-135+63dup