Canonical Allele Identifier: CA2807445506
Gene: LCAT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940830_67940832del , CM000678.2:g.67940830_67940832del GRCh38
NC_000016.9:g.67974733_67974735del , CM000678.1:g.67974733_67974735del GRCh37
NC_000016.8:g.66532234_66532236del NCBI36
NG_009778.1:g.8281_8283del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.749-354_749-352del MANE Select ENSP00000264005.5:n.749-354_749-352del
ENST00000264005.9:c.749-354_749-352del ENSP00000264005.5:n.749-354_749-352del
ENST00000570369.5:c.156-758_156-756del
ENST00000570980.1:c.533-354_533-352del ENSP00000464651.1:n.533-354_533-352del
ENST00000573538.5:c.392-1_393del
NM_000229.1:c.749-354_749-352del NP_000220.1:n.749-354_749-352del
NM_000229.2:c.749-354_749-352del MANE Select NP_000220.1:n.749-354_749-352del