Canonical Allele Identifier: CA919730845
Gene: LCAT HGNC NCBI

Linked Data

dbSNP Id: rs763496682

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940191_67940192insGGGGGGGG , CM000678.2:g.67940191_67940192insGGGGGGGG GRCh38
NC_000016.9:g.67974094_67974095insGGGGGGGG , CM000678.1:g.67974094_67974095insGGGGGGGG GRCh37
NC_000016.8:g.66531595_66531596insGGGGGGGG NCBI36
NG_009778.1:g.8925_8926insCCCCCCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.1039_1040insCCCCCCCC MANE Select ENSP00000264005.5:p.Arg347ProfsTer?
ENST00000264005.9:c.1039_1040insCCCCCCCC ENSP00000264005.5:p.Arg347ProfsTer?
ENST00000570369.5:c.156-114_156-113insCCCCCCCC
ENST00000573538.5:c.777_778insCCCCCCCC ENSP00000463220.1:n.777_778insCCCCCCCC
NM_000229.1:c.1039_1040insCCCCCCCC NP_000220.1:p.Arg347ProfsTer?
NM_000229.2:c.1039_1040insCCCCCCCC MANE Select NP_000220.1:p.Arg347ProfsTer?