Canonical Allele Identifier: CA2576033413

Gene: LCAT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67939983_67940001del , CM000678.2:g.67939983_67940001del	GRCh38
NC_000016.9:g.67973886_67973904del , CM000678.1:g.67973886_67973904del	GRCh37
NC_000016.8:g.66531387_66531405del	NCBI36
NG_009778.1:g.9114_9132del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264005.10:c.1228_1246del MANE Select	ENSP00000264005.5:p.Thr410ProfsTer?
ENST00000264005.9:c.1228_1246del	ENSP00000264005.5:p.Thr410ProfsTer?
ENST00000570369.5:c.231_249del
ENST00000573538.5:c.966_984del	ENSP00000463220.1:n.966_984del
NM_000229.1:c.1228_1246del	NP_000220.1:p.Thr410ProfsTer?
NM_000229.2:c.1228_1246del MANE Select	NP_000220.1:p.Thr410ProfsTer?