Canonical Allele Identifier: CA2678432734

Gene: LHFPL5

Linked Data

• gnomAD v4: 6-35805853-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35805855del , CM000668.2:g.35805855del	GRCh38
NC_000006.11:g.35773632del , CM000668.1:g.35773632del	GRCh37
NC_000006.10:g.35881610del	NCBI36
NG_012184.1:g.5562del
NG_012184.2:g.5562del
NG_012184.3:g.13650del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.185del MANE Select	ENSP00000353346.1:p.Phe62SerfsTer23
ENST00000651132.1:c.185del	ENSP00000498322.1:p.Phe62SerfsTer23
ENST00000651676.1:c.185del	ENSP00000498699.1:p.Phe62SerfsTer23
ENST00000651994.1:c.185del	ENSP00000498310.1:p.Phe62SerfsTer23
ENST00000652718.1:c.17del	ENSP00000498866.1:p.Phe6SerfsTer23
ENST00000360215.2:c.185del	ENSP00000353346.1:p.Phe62SerfsTer23
NM_182548.3:c.185del	NP_872354.1:p.Phe62SerfsTer23
XM_011514403.1:c.185del	XP_011512705.1:p.Phe62SerfsTer23
NM_182548.4:c.185del MANE Select	NP_872354.1:p.Phe62SerfsTer23