Canonical Allele Identifier: CA2633851521
Gene: LCAT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940665_67940671del , CM000678.2:g.67940665_67940671del GRCh38
NC_000016.9:g.67974568_67974574del , CM000678.1:g.67974568_67974574del GRCh37
NC_000016.8:g.66532069_66532075del NCBI36
NG_009778.1:g.8442_8448del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.749-193_749-187del MANE Select ENSP00000264005.5:n.749-193_749-187del
ENST00000264005.9:c.749-193_749-187del ENSP00000264005.5:n.749-193_749-187del
ENST00000570369.5:c.156-597_156-591del
ENST00000570980.1:c.533-193_533-187del ENSP00000464651.1:n.533-193_533-187del
ENST00000573538.5:c.486+66_486+72del ENSP00000463220.1:n.486+66_486+72del
NM_000229.1:c.749-193_749-187del NP_000220.1:n.749-193_749-187del
NM_000229.2:c.749-193_749-187del MANE Select NP_000220.1:n.749-193_749-187del