Canonical Allele Identifier: CA2576033581
Gene: LCAT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67942850_67942851del , CM000678.2:g.67942850_67942851del GRCh38
NC_000016.9:g.67976753_67976754del , CM000678.1:g.67976753_67976754del GRCh37
NC_000016.8:g.66534254_66534255del NCBI36
NG_009778.1:g.6264_6265del
NG_033098.1:g.30846_30847del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.427+12_427+13del MANE Select ENSP00000264005.5:n.427+12_427+13del
ENST00000264005.9:c.427+12_427+13del ENSP00000264005.5:n.427+12_427+13del
ENST00000570369.5:c.155+12_155+13del
ENST00000570980.1:c.211+12_211+13del ENSP00000464651.1:n.211+12_211+13del
ENST00000573538.5:c.70+12_70+13del ENSP00000463220.1:n.70+12_70+13del
ENST00000573846.1:n.41+12_41+13del
ENST00000575277.1:n.205+12_205+13del
ENST00000575467.5:c.*122+12_*122+13del ENSP00000460653.1:n.*122+12_*122+13del
NM_000229.1:c.427+12_427+13del NP_000220.1:n.427+12_427+13del
NM_000229.2:c.427+12_427+13del MANE Select NP_000220.1:n.427+12_427+13del