Canonical Allele Identifier: CA623122338

Gene: LCAT

Linked Data

• gnomAD v2: 16-67974090-C-CGGGGGGG
• MyVariant Identifiers: chr16:g.67974090_67974091insGGGGGGG (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67940191_67940192insGGGGGGG , CM000678.2:g.67940191_67940192insGGGGGGG	GRCh38
NC_000016.9:g.67974094_67974095insGGGGGGG , CM000678.1:g.67974094_67974095insGGGGGGG	GRCh37
NC_000016.8:g.66531595_66531596insGGGGGGG	NCBI36
NG_009778.1:g.8925_8926insCCCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264005.10:c.1039_1040insCCCCCCC MANE Select	ENSP00000264005.5:p.Arg347ProfsTer22
ENST00000264005.9:c.1039_1040insCCCCCCC	ENSP00000264005.5:p.Arg347ProfsTer22
ENST00000570369.5:c.156-114_156-113insCCCCCCC
ENST00000573538.5:c.777_778insCCCCCCC	ENSP00000463220.1:n.777_778insCCCCCCC
NM_000229.1:c.1039_1040insCCCCCCC	NP_000220.1:p.Arg347ProfsTer22
NM_000229.2:c.1039_1040insCCCCCCC MANE Select	NP_000220.1:p.Arg347ProfsTer22