Canonical Allele Identifier: CA2678432740

Gene: LHFPL5

Linked Data

• gnomAD v4: 6-35805967-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35805969_35805970del , CM000668.2:g.35805969_35805970del	GRCh38
NC_000006.11:g.35773746_35773747del , CM000668.1:g.35773746_35773747del	GRCh37
NC_000006.10:g.35881724_35881725del	NCBI36
NG_012184.1:g.5676_5677del
NG_012184.2:g.5676_5677del
NG_012184.3:g.13764_13765del

Transcript Alleles

HGVS	Amino-acid change
ENST00000360215.3:c.299_300del MANE Select	ENSP00000353346.1:p.Phe100CysfsTer28
ENST00000651132.1:c.299_300del	ENSP00000498322.1:p.Phe100CysfsTer28
ENST00000651676.1:c.299_300del	ENSP00000498699.1:p.Phe100CysfsTer28
ENST00000651994.1:c.299_300del	ENSP00000498310.1:p.Phe100CysfsTer28
ENST00000652718.1:c.131_132del	ENSP00000498866.1:p.Phe44CysfsTer28
ENST00000360215.2:c.299_300del	ENSP00000353346.1:p.Phe100CysfsTer28
NM_182548.3:c.299_300del	NP_872354.1:p.Phe100CysfsTer28
XM_011514403.1:c.299_300del	XP_011512705.1:p.Phe100CysfsTer28
NM_182548.4:c.299_300del MANE Select	NP_872354.1:p.Phe100CysfsTer28