Canonical Allele Identifier: CA2678433168

Gene: LHFPL5

Linked Data

• gnomAD v4: 6-35814551-GGCCTAATGATTGGCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35814556_35814570del , CM000668.2:g.35814556_35814570del	GRCh38
NC_000006.11:g.35782333_35782347del , CM000668.1:g.35782333_35782347del	GRCh37
NC_000006.10:g.35890311_35890325del	NCBI36
NG_012184.1:g.14263_14277del
NG_012184.2:g.14263_14277del
NG_012184.3:g.22351_22365del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.423_437del MANE Select	ENSP00000353346.1:p.Met142_Leu146del
ENST00000496656.2:n.202_216del
ENST00000651132.1:c.423_437del	ENSP00000498322.1:p.Met142_Leu146del
ENST00000651676.1:c.423_437del	ENSP00000498699.1:p.Met142_Leu146del
ENST00000651994.1:c.*70-4881_*70-4867del	ENSP00000498310.1:n.*70-4881_*70-4867del
ENST00000652718.1:c.255_269del	ENSP00000498866.1:p.Met86_Leu90del
ENST00000360215.2:c.423_437del	ENSP00000353346.1:p.Met142_Leu146del
ENST00000496656.1:n.202_216del
NM_182548.3:c.423_437del	NP_872354.1:p.Met142_Leu146del
XM_011514403.1:c.423_437del	XP_011512705.1:p.Met142_Leu146del
NM_182548.4:c.423_437del MANE Select	NP_872354.1:p.Met142_Leu146del