Canonical Allele Identifier: CA978460279
Gene: LCAT HGNC NCBI

Linked Data

dbSNP Id: rs2058285603
gnomAD v3: 16-67940351-TGTGGAAATGAACAC-T
gnomAD v4: 16-67940351-TGTGGAAATGAACAC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940356_67940369del , CM000678.2:g.67940356_67940369del GRCh38
NC_000016.9:g.67974259_67974272del , CM000678.1:g.67974259_67974272del GRCh37
NC_000016.8:g.66531760_66531773del NCBI36
NG_009778.1:g.8748_8761del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.862_875del MANE Select ENSP00000264005.5:p.Val288ThrfsTer9
ENST00000264005.9:c.862_875del ENSP00000264005.5:p.Val288ThrfsTer9
ENST00000570369.5:c.156-291_156-278del
ENST00000570980.1:c.646_659del ENSP00000464651.1:p.Val216ThrfsTer9
ENST00000573538.5:c.600_613del ENSP00000463220.1:n.600_613del
NM_000229.1:c.862_875del NP_000220.1:p.Val288ThrfsTer9
NM_000229.2:c.862_875del MANE Select NP_000220.1:p.Val288ThrfsTer9
Search 100 bp 5'
Search 100 bp 3'