Canonical Allele Identifier: CA2338168229
Gene: APOE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44909370_44909381delinsTAAAGATTCACC , CM000681.2:g.44909370_44909381delinsTAAAGATTCACC GRCh38
NC_000019.9:g.45412627_45412638delinsTAAAGATTCACC , CM000681.1:g.45412627_45412638delinsTAAAGATTCACC GRCh37
NC_000019.8:g.50104467_50104478delinsTAAAGATTCACC NCBI36
NG_007084.2:g.8589_8600delinsTAAAGATTCACC

Transcript Alleles

HGVS Amino-acid Change
ENST00000252486.9:c.*120_*131delinsTAAAGATTCACC MANE Select ENSP00000252486.3:n.*120_*131delinsTAAAGATTCACC
ENST00000252486.8:c.*120_*131delinsTAAAGATTCACC ENSP00000252486.3:n.*120_*131delinsTAAAGATTCACC
NM_000041.3:c.*120_*131delinsTAAAGATTCACC NP_000032.1:n.*120_*131delinsTAAAGATTCACC
NM_001302688.1:c.*120_*131delinsTAAAGATTCACC NP_001289617.1:n.*120_*131delinsTAAAGATTCACC
NM_001302689.1:c.*120_*131delinsTAAAGATTCACC NP_001289618.1:n.*120_*131delinsTAAAGATTCACC
NM_001302690.1:c.*120_*131delinsTAAAGATTCACC NP_001289619.1:n.*120_*131delinsTAAAGATTCACC
NM_001302691.1:c.*120_*131delinsTAAAGATTCACC NP_001289620.1:n.*120_*131delinsTAAAGATTCACC
NM_000041.4:c.*120_*131delinsTAAAGATTCACC MANE Select NP_000032.1:n.*120_*131delinsTAAAGATTCACC
NM_001302688.2:c.*120_*131delinsTAAAGATTCACC NP_001289617.1:n.*120_*131delinsTAAAGATTCACC
NM_001302689.2:c.*120_*131delinsTAAAGATTCACC NP_001289618.1:n.*120_*131delinsTAAAGATTCACC
NM_001302691.2:c.*120_*131delinsTAAAGATTCACC NP_001289620.1:n.*120_*131delinsTAAAGATTCACC
NM_001302690.2:c.*120_*131delinsTAAAGATTCACC NP_001289619.1:n.*120_*131delinsTAAAGATTCACC