Canonical Allele Identifier: CA566495844

Gene: LHFPL5

Linked Data

• dbSNP Id: rs1341062494
• gnomAD v2: 6-35791301-AG-A
• gnomAD v3: 6-35823524-AG-A
• gnomAD v4: 6-35823524-AG-A
• MyVariant Identifiers: chr6:g.35791302del (hg19) ; chr6:g.35823525del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35823527del , CM000668.2:g.35823527del	GRCh38
NC_000006.11:g.35791304del , CM000668.1:g.35791304del	GRCh37
NC_000006.10:g.35899282del	NCBI36
NG_012184.1:g.23234del
NG_012184.2:g.23234del
NG_012184.3:g.31322del

Transcript Alleles

HGVS	Amino-acid change
ENST00000360215.3:c.*562del MANE Select	ENSP00000353346.1:n.*562del
ENST00000496656.2:n.578+3707del
ENST00000651132.1:c.*562del	ENSP00000498322.1:n.*562del
ENST00000651676.1:c.*16+4064del	ENSP00000498699.1:n.*16+4064del
ENST00000651994.1:c.*642del	ENSP00000498310.1:n.*642del
ENST00000652718.1:c.508+4064del	ENSP00000498866.1:n.508+4064del
ENST00000360215.2:c.*562del	ENSP00000353346.1:n.*562del
ENST00000496656.1:n.812+3707del
NM_182548.3:c.*562del	NP_872354.1:n.*562del
NM_182548.4:c.*562del MANE Select	NP_872354.1:n.*562del