Canonical Allele Identifier: CA2633851016
Gene: LCAT HGNC NCBI

Linked Data

gnomAD v4: 16-67940410-AGGT-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940417_67940419del , CM000678.2:g.67940417_67940419del GRCh38
NC_000016.9:g.67974320_67974322del , CM000678.1:g.67974320_67974322del GRCh37
NC_000016.8:g.66531821_66531823del NCBI36
NG_009778.1:g.8700_8702del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.814_816del MANE Select ENSP00000264005.5:p.Thr272del
ENST00000264005.9:c.814_816del ENSP00000264005.5:p.Thr272del
ENST00000570369.5:c.156-339_156-337del
ENST00000570980.1:c.598_600del ENSP00000464651.1:p.Thr200del
ENST00000573538.5:c.552_554del ENSP00000463220.1:n.552_554del
NM_000229.1:c.814_816del NP_000220.1:p.Thr272del
NM_000229.2:c.814_816del MANE Select NP_000220.1:p.Thr272del
Search 100 bp 5'
Search 100 bp 3'