Canonical Allele Identifier: CA2633851985
Gene: LCAT HGNC NCBI

Linked Data

gnomAD v4: 16-67940821-AG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940822del , CM000678.2:g.67940822del GRCh38
NC_000016.9:g.67974725del , CM000678.1:g.67974725del GRCh37
NC_000016.8:g.66532226del NCBI36
NG_009778.1:g.8291del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.749-344del MANE Select ENSP00000264005.5:n.749-344del
ENST00000264005.9:c.749-344del ENSP00000264005.5:n.749-344del
ENST00000570369.5:c.156-748del
ENST00000570980.1:c.533-344del ENSP00000464651.1:n.533-344del
ENST00000573538.5:c.401del ENSP00000463220.1:p.Ser134PhefsTer30
NM_000229.1:c.749-344del NP_000220.1:n.749-344del
NM_000229.2:c.749-344del MANE Select NP_000220.1:n.749-344del
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