Canonical Allele Identifier: CA2576033575
Gene: LCAT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67942795_67942810del , CM000678.2:g.67942795_67942810del GRCh38
NC_000016.9:g.67976698_67976713del , CM000678.1:g.67976698_67976713del GRCh37
NC_000016.8:g.66534199_66534214del NCBI36
NG_009778.1:g.6303_6318del
NG_033098.1:g.30885_30900del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.428-44_428-29del MANE Select ENSP00000264005.5:n.428-44_428-29del
ENST00000264005.9:c.428-44_428-29del ENSP00000264005.5:n.428-44_428-29del
ENST00000570369.5:c.155+51_155+66del
ENST00000570980.1:c.212-44_212-29del ENSP00000464651.1:n.212-44_212-29del
ENST00000573538.5:c.71-44_71-29del ENSP00000463220.1:n.71-44_71-29del
ENST00000573846.1:n.42-44_42-29del
ENST00000575277.1:n.206-44_206-29del
ENST00000575467.5:c.*123-44_*123-29del ENSP00000460653.1:n.*123-44_*123-29del
NM_000229.1:c.428-44_428-29del NP_000220.1:n.428-44_428-29del
NM_000229.2:c.428-44_428-29del MANE Select NP_000220.1:n.428-44_428-29del