Canonical Allele Identifier: CA978460599
Gene: LCAT HGNC NCBI

Linked Data

gnomAD v3: 16-67940835-CAAAA-C
gnomAD v4: 16-67940835-CAAAA-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940852_67940855del , CM000678.2:g.67940852_67940855del GRCh38
NC_000016.9:g.67974755_67974758del , CM000678.1:g.67974755_67974758del GRCh37
NC_000016.8:g.66532256_66532259del NCBI36
NG_009778.1:g.8274_8277del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.749-361_749-358del MANE Select ENSP00000264005.5:n.749-361_749-358del
ENST00000264005.9:c.749-361_749-358del ENSP00000264005.5:n.749-361_749-358del
ENST00000570369.5:c.156-765_156-762del
ENST00000570980.1:c.533-361_533-358del ENSP00000464651.1:n.533-361_533-358del
ENST00000573538.5:c.392-8_392-5del ENSP00000463220.1:n.392-8_392-5del
NM_000229.1:c.749-361_749-358del NP_000220.1:n.749-361_749-358del
NM_000229.2:c.749-361_749-358del MANE Select NP_000220.1:n.749-361_749-358del
Search 100 bp 5'
Search 100 bp 3'