Canonical Allele Identifier: CA2229563433
Gene: LCAT HGNC NCBI

Linked Data

dbSNP Id: rs2058286639

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940595_67940596del , CM000678.2:g.67940595_67940596del GRCh38
NC_000016.9:g.67974498_67974499del , CM000678.1:g.67974498_67974499del GRCh37
NC_000016.8:g.66531999_66532000del NCBI36
NG_009778.1:g.8518_8519del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.749-117_749-116del MANE Select ENSP00000264005.5:n.749-117_749-116del
ENST00000264005.9:c.749-117_749-116del ENSP00000264005.5:n.749-117_749-116del
ENST00000570369.5:c.156-521_156-520del
ENST00000570980.1:c.533-117_533-116del ENSP00000464651.1:n.533-117_533-116del
ENST00000573538.5:c.487-117_487-116del ENSP00000463220.1:n.487-117_487-116del
NM_000229.1:c.749-117_749-116del NP_000220.1:n.749-117_749-116del
NM_000229.2:c.749-117_749-116del MANE Select NP_000220.1:n.749-117_749-116del