Canonical Allele Identifier: CA2229563142
Gene: LCAT HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67939949_67939959delinsGGGACCCTGGC , CM000678.2:g.67939949_67939959delinsGGGACCCTGGC GRCh38
NC_000016.9:g.67973852_67973862delinsGGGACCCTGGC , CM000678.1:g.67973852_67973862delinsGGGACCCTGGC GRCh37
NC_000016.8:g.66531353_66531363delinsGGGACCCTGGC NCBI36
NG_009778.1:g.9154_9164delinsGCCAGGGTCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.1268_1278delinsGCCAGGGTCCC MANE Select ENSP00000264005.5:p.Arg423=
ENST00000264005.9:c.1268_1278delinsGCCAGGGTCCC ENSP00000264005.5:p.Arg423=
ENST00000570369.5:c.271_281delinsGCCAGGGTCCC
ENST00000573538.5:c.1006_1016delinsGCCAGGGTCCC ENSP00000463220.1:n.1006_1016delinsGCCAGGGTCCC
NM_000229.1:c.1268_1278delinsGCCAGGGTCCC NP_000220.1:p.Arg423=
NM_000229.2:c.1268_1278delinsGCCAGGGTCCC MANE Select NP_000220.1:p.Arg423=
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