Canonical Allele Identifier: CA623122365
Gene: LCAT HGNC NCBI

Linked Data

dbSNP Id: rs1432561712
gnomAD v2: 16-67976904-CAGCCAGT-C
gnomAD v4: 16-67943001-CAGCCAGT-C
MyVariant Identifiers: chr16:g.67976905_67976911del (hg19) chr16:g.67943002_67943008del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67943007_67943013del , CM000678.2:g.67943007_67943013del GRCh38
NC_000016.9:g.67976910_67976916del , CM000678.1:g.67976910_67976916del GRCh37
NC_000016.8:g.66534411_66534417del NCBI36
NG_009778.1:g.6105_6111del
NG_033098.1:g.30687_30693del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.312-32_312-26del MANE Select ENSP00000264005.5:n.312-32_312-26del
ENST00000264005.9:c.312-32_312-26del ENSP00000264005.5:n.312-32_312-26del
ENST00000570369.5:c.40-32_40-26del
ENST00000570980.1:c.96-32_96-26del ENSP00000464651.1:n.96-32_96-26del
ENST00000575277.1:n.90-32_90-26del
ENST00000575467.5:c.*7-32_*7-26del ENSP00000460653.1:n.*7-32_*7-26del
NM_000229.1:c.312-32_312-26del NP_000220.1:n.312-32_312-26del
NM_000229.2:c.312-32_312-26del MANE Select NP_000220.1:n.312-32_312-26del
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