Canonical Allele Identifier: CA2633851533

Gene: LCAT

Linked Data

• gnomAD v4: 16-67940672-AAGACCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67940673_67940678del , CM000678.2:g.67940673_67940678del	GRCh38
NC_000016.9:g.67974576_67974581del , CM000678.1:g.67974576_67974581del	GRCh37
NC_000016.8:g.66532077_66532082del	NCBI36
NG_009778.1:g.8435_8440del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264005.10:c.749-200_749-195del MANE Select	ENSP00000264005.5:n.749-200_749-195del
ENST00000264005.9:c.749-200_749-195del	ENSP00000264005.5:n.749-200_749-195del
ENST00000570369.5:c.156-604_156-599del
ENST00000570980.1:c.533-200_533-195del	ENSP00000464651.1:n.533-200_533-195del
ENST00000573538.5:c.486+59_486+64del	ENSP00000463220.1:n.486+59_486+64del
NM_000229.1:c.749-200_749-195del	NP_000220.1:n.749-200_749-195del
NM_000229.2:c.749-200_749-195del MANE Select	NP_000220.1:n.749-200_749-195del