Canonical Allele Identifier: CA2576033452
Gene: LCAT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940380del , CM000678.2:g.67940380del GRCh38
NC_000016.9:g.67974283del , CM000678.1:g.67974283del GRCh37
NC_000016.8:g.66531784del NCBI36
NG_009778.1:g.8733del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.847del MANE Select ENSP00000264005.5:p.Trp283GlyfsTer?
ENST00000264005.9:c.847del ENSP00000264005.5:p.Trp283GlyfsTer?
ENST00000570369.5:c.156-306del
ENST00000570980.1:c.631del ENSP00000464651.1:p.Trp211GlyfsTer?
ENST00000573538.5:c.585del ENSP00000463220.1:n.585del
NM_000229.1:c.847del NP_000220.1:p.Trp283GlyfsTer?
NM_000229.2:c.847del MANE Select NP_000220.1:p.Trp283GlyfsTer?