Canonical Allele Identifier: CA2229563427
Gene: LCAT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940589_67940591delinsGAC , CM000678.2:g.67940589_67940591delinsGAC GRCh38
NC_000016.9:g.67974492_67974494delinsGAC , CM000678.1:g.67974492_67974494delinsGAC GRCh37
NC_000016.8:g.66531993_66531995delinsGAC NCBI36
NG_009778.1:g.8522_8524delinsGTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.749-113_749-111delinsGTC MANE Select ENSP00000264005.5:n.749-113_749-111delinsGTC
ENST00000264005.9:c.749-113_749-111delinsGTC ENSP00000264005.5:n.749-113_749-111delinsGTC
ENST00000570369.5:c.156-517_156-515delinsGTC
ENST00000570980.1:c.533-113_533-111delinsGTC ENSP00000464651.1:n.533-113_533-111delinsGTC
ENST00000573538.5:c.487-113_487-111delinsGTC ENSP00000463220.1:n.487-113_487-111delinsGTC
NM_000229.1:c.749-113_749-111delinsGTC NP_000220.1:n.749-113_749-111delinsGTC
NM_000229.2:c.749-113_749-111delinsGTC MANE Select NP_000220.1:n.749-113_749-111delinsGTC