Canonical Allele Identifier: CA2229563160
Gene: LCAT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67939992_67939993delinsTC , CM000678.2:g.67939992_67939993delinsTC GRCh38
NC_000016.9:g.67973895_67973896delinsTC , CM000678.1:g.67973895_67973896delinsTC GRCh37
NC_000016.8:g.66531396_66531397delinsTC NCBI36
NG_009778.1:g.9120_9121delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.1234_1235delinsGA MANE Select ENSP00000264005.5:p.Glu412=
ENST00000264005.9:c.1234_1235delinsGA ENSP00000264005.5:p.Glu412=
ENST00000570369.5:c.237_238delinsGA
ENST00000573538.5:c.972_973delinsGA ENSP00000463220.1:n.972_973delinsGA
NM_000229.1:c.1234_1235delinsGA NP_000220.1:p.Glu412=
NM_000229.2:c.1234_1235delinsGA MANE Select NP_000220.1:p.Glu412=