Canonical Allele Identifier: CA2807445502
Gene: LCAT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940826_67940833del , CM000678.2:g.67940826_67940833del GRCh38
NC_000016.9:g.67974729_67974736del , CM000678.1:g.67974729_67974736del GRCh37
NC_000016.8:g.66532230_66532237del NCBI36
NG_009778.1:g.8280_8287del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.749-355_749-348del MANE Select ENSP00000264005.5:n.749-355_749-348del
ENST00000264005.9:c.749-355_749-348del ENSP00000264005.5:n.749-355_749-348del
ENST00000570369.5:c.156-759_156-752del
ENST00000570980.1:c.533-355_533-348del ENSP00000464651.1:n.533-355_533-348del
ENST00000573538.5:c.392-2_397del
NM_000229.1:c.749-355_749-348del NP_000220.1:n.749-355_749-348del
NM_000229.2:c.749-355_749-348del MANE Select NP_000220.1:n.749-355_749-348del