Canonical Allele Identifier: CA623122722
Gene: LCAT HGNC NCBI

Linked Data

dbSNP Id: rs1369936468
gnomAD v2: 16-67973970-T-TG
MyVariant Identifiers: chr16:g.67973970_67973971insG (hg19) chr16:g.67940067_67940068insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940069dup , CM000678.2:g.67940069dup GRCh38
NC_000016.9:g.67973972dup , CM000678.1:g.67973972dup GRCh37
NC_000016.8:g.66531473dup NCBI36
NG_009778.1:g.9045dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.1159dup MANE Select ENSP00000264005.5:p.Gln387ProfsTer?
ENST00000264005.9:c.1159dup ENSP00000264005.5:p.Gln387ProfsTer?
ENST00000570369.5:c.162dup
ENST00000573538.5:c.897dup ENSP00000463220.1:n.897dup
NM_000229.1:c.1159dup NP_000220.1:p.Gln387ProfsTer?
NM_000229.2:c.1159dup MANE Select NP_000220.1:p.Gln387ProfsTer?
Search 100 bp 5'
Search 100 bp 3'