Canonical Allele Identifier: CA723097531
Gene: LCAT HGNC NCBI

Linked Data

dbSNP Id: rs1392922111
MyVariant Identifiers: chr16:g.67974197del (hg19) chr16:g.67940294del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940296del , CM000678.2:g.67940296del GRCh38
NC_000016.9:g.67974199del , CM000678.1:g.67974199del GRCh37
NC_000016.8:g.66531700del NCBI36
NG_009778.1:g.8819del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.933del MANE Select ENSP00000264005.5:p.Phe311LeufsTer?
ENST00000264005.9:c.933del ENSP00000264005.5:p.Phe311LeufsTer?
ENST00000570369.5:c.156-220del
ENST00000570980.1:c.717del ENSP00000464651.1:p.Phe239LeufsTer?
ENST00000573538.5:c.671del ENSP00000463220.1:n.671del
NM_000229.1:c.933del NP_000220.1:p.Phe311LeufsTer?
NM_000229.2:c.933del MANE Select NP_000220.1:p.Phe311LeufsTer?
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