Canonical Allele Identifier: CA10622016
Gene: LHFPL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 356552
ClinVar RCV Id: RCV000316674
dbSNP Id: rs796097780

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35823869del , CM000668.2:g.35823869del GRCh38
NC_000006.11:g.35791646del , CM000668.1:g.35791646del GRCh37
NC_000006.10:g.35899624del NCBI36
NG_012184.1:g.23576del
NG_012184.2:g.23576del
NG_012184.3:g.31664del

Transcript Alleles

HGVS Amino-acid Change
ENST00000360215.3:c.*904del MANE Select ENSP00000353346.1:n.*904del
ENST00000496656.2:n.578+4049del
ENST00000651132.1:c.*904del ENSP00000498322.1:n.*904del
ENST00000651676.1:c.*16+4406del ENSP00000498699.1:n.*16+4406del
ENST00000652718.1:c.508+4406del ENSP00000498866.1:n.508+4406del
ENST00000360215.2:c.*904del ENSP00000353346.1:n.*904del
ENST00000496656.1:n.812+4049del
NM_182548.3:c.*904del NP_872354.1:n.*904del
NM_182548.4:c.*904del MANE Select NP_872354.1:n.*904del