Canonical Allele Identifier: CA623122720
Gene: LCAT HGNC NCBI

Linked Data

dbSNP Id: rs1456250809
gnomAD v2: 16-67973852-GGGACCCTGGC-G
gnomAD v4: 16-67939949-GGGACCCTGGC-G
MyVariant Identifiers: chr16:g.67973853_67973862del (hg19) chr16:g.67939950_67939959del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67939952_67939961del , CM000678.2:g.67939952_67939961del GRCh38
NC_000016.9:g.67973855_67973864del , CM000678.1:g.67973855_67973864del GRCh37
NC_000016.8:g.66531356_66531365del NCBI36
NG_009778.1:g.9154_9163del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.1268_1277del MANE Select ENSP00000264005.5:p.Arg423ProfsTer23
ENST00000264005.9:c.1268_1277del ENSP00000264005.5:p.Arg423ProfsTer23
ENST00000570369.5:c.271_280del
ENST00000573538.5:c.1006_1015del ENSP00000463220.1:n.1006_1015del
NM_000229.1:c.1268_1277del NP_000220.1:p.Arg423ProfsTer?
NM_000229.2:c.1268_1277del MANE Select NP_000220.1:p.Arg423ProfsTer23
Search 100 bp 5'
Search 100 bp 3'