Canonical Allele Identifier: CA2633851922
Gene: LCAT HGNC NCBI

Linked Data

gnomAD v4: 16-67940810-GCAATGCAGTGAGAC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940812_67940825del , CM000678.2:g.67940812_67940825del GRCh38
NC_000016.9:g.67974715_67974728del , CM000678.1:g.67974715_67974728del GRCh37
NC_000016.8:g.66532216_66532229del NCBI36
NG_009778.1:g.8289_8302del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.749-346_749-333del MANE Select ENSP00000264005.5:n.749-346_749-333del
ENST00000264005.9:c.749-346_749-333del ENSP00000264005.5:n.749-346_749-333del
ENST00000570369.5:c.156-750_156-737del
ENST00000570980.1:c.533-346_533-333del ENSP00000464651.1:n.533-346_533-333del
ENST00000573538.5:c.399_412del ENSP00000463220.1:p.Ser134LeufsTer11
NM_000229.1:c.749-346_749-333del NP_000220.1:n.749-346_749-333del
NM_000229.2:c.749-346_749-333del MANE Select NP_000220.1:n.749-346_749-333del
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