Canonical Allele Identifier: CA915944241

Gene: LHFPL5

Linked Data

• ClinVar Variation Id: 1696
• ClinVar RCV Id: RCV000001764 ; RCV001813935
• dbSNP Id: rs1581972457

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35814783del , CM000668.2:g.35814783del	GRCh38
NC_000006.11:g.35782560del , CM000668.1:g.35782560del	GRCh37
NC_000006.10:g.35890538del	NCBI36
NG_012184.1:g.14490del
NG_012184.2:g.14490del
NG_012184.3:g.22578del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.649+1del
ENST00000496656.2:n.428+1del
ENST00000651132.1:c.649+1del
ENST00000651676.1:c.649+1del
ENST00000651994.1:c.*70-4654del	ENSP00000498310.1:n.*70-4654del
ENST00000652718.1:c.481+1del
ENST00000360215.2:c.649+1del
ENST00000496656.1:n.428+1del
NM_182548.3:c.649+1del
XM_011514403.1:c.649+1del
NM_182548.4:c.649+1del