Canonical Allele Identifier: CA2678433170

Gene: LHFPL5

Linked Data

• gnomAD v4: 6-35814681-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35814683del , CM000668.2:g.35814683del	GRCh38
NC_000006.11:g.35782460del , CM000668.1:g.35782460del	GRCh37
NC_000006.10:g.35890438del	NCBI36
NG_012184.1:g.14390del
NG_012184.2:g.14390del
NG_012184.3:g.22478del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.550del MANE Select	ENSP00000353346.1:p.Leu184SerfsTer?
ENST00000496656.2:n.329del
ENST00000651132.1:c.550del	ENSP00000498322.1:p.Leu184SerfsTer?
ENST00000651676.1:c.550del	ENSP00000498699.1:p.Leu184SerfsTer?
ENST00000651994.1:c.*70-4754del	ENSP00000498310.1:n.*70-4754del
ENST00000652718.1:c.382del	ENSP00000498866.1:p.Leu128SerfsTer?
ENST00000360215.2:c.550del	ENSP00000353346.1:p.Leu184SerfsTer?
ENST00000496656.1:n.329del
NM_182548.3:c.550del	NP_872354.1:p.Leu184SerfsTer?
XM_011514403.1:c.550del	XP_011512705.1:p.Leu184SerfsTer?
NM_182548.4:c.550del MANE Select	NP_872354.1:p.Leu184SerfsTer?