Canonical Allele Identifier: CA2532360751
Gene: LCAT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940023_67940024del , CM000678.2:g.67940023_67940024del GRCh38
NC_000016.9:g.67973926_67973927del , CM000678.1:g.67973926_67973927del GRCh37
NC_000016.8:g.66531427_66531428del NCBI36
NG_009778.1:g.9091_9092del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.1205_1206del MANE Select ENSP00000264005.5:p.Leu402GlnfsTer?
ENST00000264005.9:c.1205_1206del ENSP00000264005.5:p.Leu402GlnfsTer?
ENST00000570369.5:c.208_209del
ENST00000573538.5:c.943_944del ENSP00000463220.1:n.943_944del
NM_000229.1:c.1205_1206del NP_000220.1:p.Leu402GlnfsTer?
NM_000229.2:c.1205_1206del MANE Select NP_000220.1:p.Leu402GlnfsTer?
Search 100 bp 5'
Search 100 bp 3'