Canonical Allele Identifier: CA2633848169

Gene: LCAT

Linked Data

• gnomAD v4: 16-67942892-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67942893del , CM000678.2:g.67942893del	GRCh38
NC_000016.9:g.67976796del , CM000678.1:g.67976796del	GRCh37
NC_000016.8:g.66534297del	NCBI36
NG_009778.1:g.6220del
NG_033098.1:g.30802del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264005.10:c.395del MANE Select	ENSP00000264005.5:p.Ser132LeufsTer?
ENST00000264005.9:c.395del	ENSP00000264005.5:p.Ser132LeufsTer?
ENST00000570369.5:c.123del
ENST00000570980.1:c.179del	ENSP00000464651.1:p.Ser60LeufsTer?
ENST00000573538.5:c.38del	ENSP00000463220.1:p.Ser13LeufsTer?
ENST00000573846.1:n.9del
ENST00000575277.1:n.173del
ENST00000575467.5:c.*90del	ENSP00000460653.1:n.*90del
NM_000229.1:c.395del	NP_000220.1:p.Ser132LeufsTer?
NM_000229.2:c.395del MANE Select	NP_000220.1:p.Ser132LeufsTer?