Canonical Allele Identifier: CA2807445504
Gene: LCAT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940830_67940833del , CM000678.2:g.67940830_67940833del GRCh38
NC_000016.9:g.67974733_67974736del , CM000678.1:g.67974733_67974736del GRCh37
NC_000016.8:g.66532234_66532237del NCBI36
NG_009778.1:g.8281_8284del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.749-354_749-351del MANE Select ENSP00000264005.5:n.749-354_749-351del
ENST00000264005.9:c.749-354_749-351del ENSP00000264005.5:n.749-354_749-351del
ENST00000570369.5:c.156-758_156-755del
ENST00000570980.1:c.533-354_533-351del ENSP00000464651.1:n.533-354_533-351del
ENST00000573538.5:c.392-1_394del
NM_000229.1:c.749-354_749-351del NP_000220.1:n.749-354_749-351del
NM_000229.2:c.749-354_749-351del MANE Select NP_000220.1:n.749-354_749-351del