Canonical Allele Identifier: CA1087840026

Gene: LHFPL5

Linked Data

• dbSNP Id: rs1768732009
• gnomAD v3: 6-35814837-TG-T
• gnomAD v4: 6-35814837-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35814842del , CM000668.2:g.35814842del	GRCh38
NC_000006.11:g.35782619del , CM000668.1:g.35782619del	GRCh37
NC_000006.10:g.35890597del	NCBI36
NG_012184.1:g.14549del
NG_012184.2:g.14549del
NG_012184.3:g.22637del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.649+60del MANE Select	ENSP00000353346.1:n.649+60del
ENST00000496656.2:n.428+60del
ENST00000651132.1:c.649+60del	ENSP00000498322.1:n.649+60del
ENST00000651676.1:c.649+60del	ENSP00000498699.1:n.649+60del
ENST00000651994.1:c.*70-4595del	ENSP00000498310.1:n.*70-4595del
ENST00000652718.1:c.481+60del	ENSP00000498866.1:n.481+60del
ENST00000360215.2:c.649+60del	ENSP00000353346.1:n.649+60del
ENST00000496656.1:n.428+60del
NM_182548.3:c.649+60del	NP_872354.1:n.649+60del
XM_011514403.1:c.649+60del	XP_011512705.1:n.649+60del
NM_182548.4:c.649+60del MANE Select	NP_872354.1:n.649+60del