Canonical Allele Identifier: CA623122337
Gene: LCAT HGNC NCBI

Linked Data

dbSNP Id: rs1425021229
gnomAD v2: 16-67974020-GTCA-G
gnomAD v4: 16-67940117-GTCA-G
MyVariant Identifiers: chr16:g.67974021_67974023del (hg19) chr16:g.67940118_67940120del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940121_67940123del , CM000678.2:g.67940121_67940123del GRCh38
NC_000016.9:g.67974024_67974026del , CM000678.1:g.67974024_67974026del GRCh37
NC_000016.8:g.66531525_66531527del NCBI36
NG_009778.1:g.8993_8995del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.1107_1109del MANE Select ENSP00000264005.5:p.Asp370del
ENST00000264005.9:c.1107_1109del ENSP00000264005.5:p.Asp370del
ENST00000570369.5:c.156-46_156-44del
ENST00000573538.5:c.845_847del ENSP00000463220.1:n.845_847del
NM_000229.1:c.1107_1109del NP_000220.1:p.Asp370del
NM_000229.2:c.1107_1109del MANE Select NP_000220.1:p.Asp370del
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