Canonical Allele Identifier: CA978460616
Gene: LCAT HGNC NCBI

Linked Data

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

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940846_67940855dup , CM000678.2:g.67940846_67940855dup GRCh38
NC_000016.9:g.67974749_67974758dup , CM000678.1:g.67974749_67974758dup GRCh37
NC_000016.8:g.66532250_66532259dup NCBI36
NG_009778.1:g.8268_8277dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.749-367_749-358dup MANE Select ENSP00000264005.5:n.749-367_749-358dup
ENST00000264005.9:c.749-367_749-358dup ENSP00000264005.5:n.749-367_749-358dup
ENST00000570369.5:c.156-771_156-762dup
ENST00000570980.1:c.533-367_533-358dup ENSP00000464651.1:n.533-367_533-358dup
ENST00000573538.5:c.392-14_392-5dup ENSP00000463220.1:n.392-14_392-5dup
NM_000229.1:c.749-367_749-358dup NP_000220.1:n.749-367_749-358dup
NM_000229.2:c.749-367_749-358dup MANE Select NP_000220.1:n.749-367_749-358dup
Search 100 bp 5'
Search 100 bp 3'