Canonical Allele Identifier: CA8120891
Gene: LCAT HGNC NCBI

Linked Data

dbSNP Id: rs760296361
ExAC: 16:67974024 TCAC / T
gnomAD v2: 16-67974024-TCAC-T
gnomAD v4: 16-67940121-TCAC-T
MyVariant Identifiers: chr16:g.67974025_67974027del (hg19) chr16:g.67940122_67940124del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940124_67940126del , CM000678.2:g.67940124_67940126del GRCh38
NC_000016.9:g.67974027_67974029del , CM000678.1:g.67974027_67974029del GRCh37
NC_000016.8:g.66531528_66531530del NCBI36
NG_009778.1:g.8989_8991del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.1103_1105del MANE Select ENSP00000264005.5:p.Gly368del
ENST00000264005.9:c.1103_1105del ENSP00000264005.5:p.Gly368del
ENST00000570369.5:c.156-50_156-48del
ENST00000573538.5:c.841_843del ENSP00000463220.1:n.841_843del
NM_000229.1:c.1103_1105del NP_000220.1:p.Gly368del
NM_000229.2:c.1103_1105del MANE Select NP_000220.1:p.Gly368del
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