Canonical Allele Identifier: CA2229563554

Gene: LCAT

Linked Data

• dbSNP Id: rs1188151330
• gnomAD v3: 16-67940835-CAAAAAAA-C
• gnomAD v4: 16-67940835-CAAAAAAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67940849_67940855del , CM000678.2:g.67940849_67940855del	GRCh38
NC_000016.9:g.67974752_67974758del , CM000678.1:g.67974752_67974758del	GRCh37
NC_000016.8:g.66532253_66532259del	NCBI36
NG_009778.1:g.8271_8277del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264005.10:c.749-364_749-358del MANE Select	ENSP00000264005.5:n.749-364_749-358del
ENST00000264005.9:c.749-364_749-358del	ENSP00000264005.5:n.749-364_749-358del
ENST00000570369.5:c.156-768_156-762del
ENST00000570980.1:c.533-364_533-358del	ENSP00000464651.1:n.533-364_533-358del
ENST00000573538.5:c.392-11_392-5del	ENSP00000463220.1:n.392-11_392-5del
NM_000229.1:c.749-364_749-358del	NP_000220.1:n.749-364_749-358del
NM_000229.2:c.749-364_749-358del MANE Select	NP_000220.1:n.749-364_749-358del