Canonical Allele Identifier: CA2695223581

Gene: LCAT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67940198del , CM000678.2:g.67940198del	GRCh38
NC_000016.9:g.67974101del , CM000678.1:g.67974101del	GRCh37
NC_000016.8:g.66531602del	NCBI36
NG_009778.1:g.8915del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264005.10:c.1029del MANE Select	ENSP00000264005.5:p.Thr345ArgfsTer?
ENST00000264005.9:c.1029del	ENSP00000264005.5:p.Thr345ArgfsTer?
ENST00000570369.5:c.156-124del
ENST00000573538.5:c.767del	ENSP00000463220.1:n.767del
NM_000229.1:c.1029del	NP_000220.1:p.Thr345ArgfsTer?
NM_000229.2:c.1029del MANE Select	NP_000220.1:p.Thr345ArgfsTer?