Canonical Allele Identifier: CA2633848134

Gene: LCAT

Linked Data

• gnomAD v4: 16-67942781-GCAGCACCGGGGGCTTGGGCCATGCCTGCTGTGGGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67942789_67942823del , CM000678.2:g.67942789_67942823del	GRCh38
NC_000016.9:g.67976692_67976726del , CM000678.1:g.67976692_67976726del	GRCh37
NC_000016.8:g.66534193_66534227del	NCBI36
NG_009778.1:g.6297_6331del
NG_033098.1:g.30879_30913del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264005.10:c.427+45_428-16del MANE Select	ENSP00000264005.5:n.427+45_428-16del
ENST00000264005.9:c.427+45_428-16del	ENSP00000264005.5:n.427+45_428-16del
ENST00000570369.5:c.155+45_155+79del
ENST00000570980.1:c.211+45_212-16del	ENSP00000464651.1:n.211+45_212-16del
ENST00000573538.5:c.70+45_71-16del	ENSP00000463220.1:n.70+45_71-16del
ENST00000573846.1:n.41+45_42-16del
ENST00000575277.1:n.205+45_206-16del
ENST00000575467.5:c.*122+45_*123-16del	ENSP00000460653.1:n.*122+45_*123-16del
NM_000229.1:c.427+45_428-16del	NP_000220.1:n.427+45_428-16del
NM_000229.2:c.427+45_428-16del MANE Select	NP_000220.1:n.427+45_428-16del