Canonical Allele Identifier: CA2585715591
Gene: APOE HGNC NCBI

Linked Data

gnomAD v4: 19-44909370-TAAAG-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44909372_44909375del , CM000681.2:g.44909372_44909375del GRCh38
NC_000019.9:g.45412629_45412632del , CM000681.1:g.45412629_45412632del GRCh37
NC_000019.8:g.50104469_50104472del NCBI36
NG_007084.2:g.8591_8594del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252486.9:c.*122_*125del MANE Select ENSP00000252486.3:n.*122_*125del
ENST00000252486.8:c.*122_*125del ENSP00000252486.3:n.*122_*125del
NM_000041.3:c.*122_*125del NP_000032.1:n.*122_*125del
NM_001302688.1:c.*122_*125del NP_001289617.1:n.*122_*125del
NM_001302689.1:c.*122_*125del NP_001289618.1:n.*122_*125del
NM_001302690.1:c.*122_*125del NP_001289619.1:n.*122_*125del
NM_001302691.1:c.*122_*125del NP_001289620.1:n.*122_*125del
NM_000041.4:c.*122_*125del MANE Select NP_000032.1:n.*122_*125del
NM_001302688.2:c.*122_*125del NP_001289617.1:n.*122_*125del
NM_001302689.2:c.*122_*125del NP_001289618.1:n.*122_*125del
NM_001302691.2:c.*122_*125del NP_001289620.1:n.*122_*125del
NM_001302690.2:c.*122_*125del NP_001289619.1:n.*122_*125del
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