Canonical Allele Identifier: CA2229563521
Gene: LCAT HGNC NCBI

Linked Data

dbSNP Id: rs2058287305

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940755_67940756del , CM000678.2:g.67940755_67940756del GRCh38
NC_000016.9:g.67974658_67974659del , CM000678.1:g.67974658_67974659del GRCh37
NC_000016.8:g.66532159_66532160del NCBI36
NG_009778.1:g.8358_8359del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.749-277_749-276del MANE Select ENSP00000264005.5:n.749-277_749-276del
ENST00000264005.9:c.749-277_749-276del ENSP00000264005.5:n.749-277_749-276del
ENST00000570369.5:c.156-681_156-680del
ENST00000570980.1:c.533-277_533-276del ENSP00000464651.1:n.533-277_533-276del
ENST00000573538.5:c.468_469del ENSP00000463220.1:n.468_469del
NM_000229.1:c.749-277_749-276del NP_000220.1:n.749-277_749-276del
NM_000229.2:c.749-277_749-276del MANE Select NP_000220.1:n.749-277_749-276del