Canonical Allele Identifier: CA2633852038

Gene: LCAT

Linked Data

• gnomAD v4: 16-67940830-CTCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67940831_67940833del , CM000678.2:g.67940831_67940833del	GRCh38
NC_000016.9:g.67974734_67974736del , CM000678.1:g.67974734_67974736del	GRCh37
NC_000016.8:g.66532235_66532237del	NCBI36
NG_009778.1:g.8280_8282del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264005.10:c.749-355_749-353del MANE Select	ENSP00000264005.5:n.749-355_749-353del
ENST00000264005.9:c.749-355_749-353del	ENSP00000264005.5:n.749-355_749-353del
ENST00000570369.5:c.156-759_156-757del
ENST00000570980.1:c.533-355_533-353del	ENSP00000464651.1:n.533-355_533-353del
ENST00000573538.5:c.392-2_392del
NM_000229.1:c.749-355_749-353del	NP_000220.1:n.749-355_749-353del
NM_000229.2:c.749-355_749-353del MANE Select	NP_000220.1:n.749-355_749-353del