Canonical Allele Identifier: CA645584338
Gene: LCAT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940191del , CM000678.2:g.67940191del GRCh38
NC_000016.9:g.67974094del , CM000678.1:g.67974094del GRCh37
NC_000016.8:g.66531595del NCBI36
NG_009778.1:g.8925del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.1039del MANE Select ENSP00000264005.5:p.Arg347AlafsTer?
ENST00000264005.9:c.1039del ENSP00000264005.5:p.Arg347AlafsTer?
ENST00000570369.5:c.156-114del
ENST00000573538.5:c.777del ENSP00000463220.1:n.777del
NM_000229.1:c.1039del NP_000220.1:p.Arg347AlafsTer?
NM_000229.2:c.1039del MANE Select NP_000220.1:p.Arg347AlafsTer?