Canonical Allele Identifier: CA283161376
Gene: LCAT HGNC NCBI

Linked Data

dbSNP Id: rs559220553
gnomAD v2: 16-67974737-AC-A
gnomAD v3: 16-67940834-AC-A
gnomAD v4: 16-67940834-AC-A
MyVariant Identifiers: chr16:g.67974738del (hg19) chr16:g.67940835del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940835del , CM000678.2:g.67940835del GRCh38
NC_000016.9:g.67974738del , CM000678.1:g.67974738del GRCh37
NC_000016.8:g.66532239del NCBI36
NG_009778.1:g.8278del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.749-357del MANE Select ENSP00000264005.5:n.749-357del
ENST00000264005.9:c.749-357del ENSP00000264005.5:n.749-357del
ENST00000570369.5:c.156-761del
ENST00000570980.1:c.533-357del ENSP00000464651.1:n.533-357del
ENST00000573538.5:c.392-4del ENSP00000463220.1:n.392-4del
NM_000229.1:c.749-357del NP_000220.1:n.749-357del
NM_000229.2:c.749-357del MANE Select NP_000220.1:n.749-357del
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