Canonical Allele Identifier: CA2633851530
Gene: LCAT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940673del , CM000678.2:g.67940673del GRCh38
NC_000016.9:g.67974576del , CM000678.1:g.67974576del GRCh37
NC_000016.8:g.66532077del NCBI36
NG_009778.1:g.8441del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.749-194del MANE Select ENSP00000264005.5:n.749-194del
ENST00000264005.9:c.749-194del ENSP00000264005.5:n.749-194del
ENST00000570369.5:c.156-598del
ENST00000570980.1:c.533-194del ENSP00000464651.1:n.533-194del
ENST00000573538.5:c.486+65del ENSP00000463220.1:n.486+65del
NM_000229.1:c.749-194del NP_000220.1:n.749-194del
NM_000229.2:c.749-194del MANE Select NP_000220.1:n.749-194del