Canonical Allele Identifier: CA824252973

Gene: LHFPL5

Linked Data

• dbSNP Id: rs1321328897
• gnomAD v3: 6-35814627-CGG-C
• gnomAD v4: 6-35814627-CGG-C
• MyVariant Identifiers: chr6:g.35782405_35782406del (hg19) ; chr6:g.35814628_35814629del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35814629_35814630del , CM000668.2:g.35814629_35814630del	GRCh38
NC_000006.11:g.35782406_35782407del , CM000668.1:g.35782406_35782407del	GRCh37
NC_000006.10:g.35890384_35890385del	NCBI36
NG_012184.1:g.14336_14337del
NG_012184.2:g.14336_14337del
NG_012184.3:g.22424_22425del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.496_497del MANE Select	ENSP00000353346.1:p.Gly166GlnfsTer?
ENST00000496656.2:n.275_276del
ENST00000651132.1:c.496_497del	ENSP00000498322.1:p.Gly166GlnfsTer?
ENST00000651676.1:c.496_497del	ENSP00000498699.1:p.Gly166GlnfsTer?
ENST00000651994.1:c.*70-4808_*70-4807del	ENSP00000498310.1:n.*70-4808_*70-4807del
ENST00000652718.1:c.328_329del	ENSP00000498866.1:p.Gly110GlnfsTer?
ENST00000360215.2:c.496_497del	ENSP00000353346.1:p.Gly166GlnfsTer?
ENST00000496656.1:n.275_276del
NM_182548.3:c.496_497del	NP_872354.1:p.Gly166GlnfsTer?
XM_011514403.1:c.496_497del	XP_011512705.1:p.Gly166GlnfsTer?
NM_182548.4:c.496_497del MANE Select	NP_872354.1:p.Gly166GlnfsTer?