Canonical Allele Identifier: CA1621066431

Gene: LHFPL5

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35814627_35814629delinsCGG , CM000668.2:g.35814627_35814629delinsCGG	GRCh38
NC_000006.11:g.35782404_35782406delinsCGG , CM000668.1:g.35782404_35782406delinsCGG	GRCh37
NC_000006.10:g.35890382_35890384delinsCGG	NCBI36
NG_012184.1:g.14334_14336delinsCGG
NG_012184.2:g.14334_14336delinsCGG
NG_012184.3:g.22422_22424delinsCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360215.3:c.494_496delinsCGG MANE Select	ENSP00000353346.1:p.Thr165=
ENST00000496656.2:n.273_275delinsCGG
ENST00000651132.1:c.494_496delinsCGG	ENSP00000498322.1:p.Thr165=
ENST00000651676.1:c.494_496delinsCGG	ENSP00000498699.1:p.Thr165=
ENST00000651994.1:c.*70-4810_*70-4808delinsCGG	ENSP00000498310.1:n.*70-4810_*70-4808delinsCGG
ENST00000652718.1:c.326_328delinsCGG	ENSP00000498866.1:p.Thr109=
ENST00000360215.2:c.494_496delinsCGG	ENSP00000353346.1:p.Thr165=
ENST00000496656.1:n.273_275delinsCGG
NM_182548.3:c.494_496delinsCGG	NP_872354.1:p.Thr165=
XM_011514403.1:c.494_496delinsCGG	XP_011512705.1:p.Thr165=
NM_182548.4:c.494_496delinsCGG MANE Select	NP_872354.1:p.Thr165=