Canonical Allele Identifier: CA2576033458
Gene: LCAT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940522_67940523del , CM000678.2:g.67940522_67940523del GRCh38
NC_000016.9:g.67974425_67974426del , CM000678.1:g.67974425_67974426del GRCh37
NC_000016.8:g.66531926_66531927del NCBI36
NG_009778.1:g.8590_8591del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.749-45_749-44del MANE Select ENSP00000264005.5:n.749-45_749-44del
ENST00000264005.9:c.749-45_749-44del ENSP00000264005.5:n.749-45_749-44del
ENST00000570369.5:c.156-449_156-448del
ENST00000570980.1:c.533-45_533-44del ENSP00000464651.1:n.533-45_533-44del
ENST00000573538.5:c.487-45_487-44del ENSP00000463220.1:n.487-45_487-44del
NM_000229.1:c.749-45_749-44del NP_000220.1:n.749-45_749-44del
NM_000229.2:c.749-45_749-44del MANE Select NP_000220.1:n.749-45_749-44del