Canonical Allele Identifier: CA9505971

Gene: APOE

Linked Data

• dbSNP Id: rs749018009
• ExAC: 19:45411044 T / TGGAGACAGAGCC
• gnomAD v2: 19-45411044-T-TGGAGACAGAGCC
• gnomAD v3: 19-44907787-T-TGGAGACAGAGCC
• gnomAD v4: 19-44907787-T-TGGAGACAGAGCC
• MyVariant Identifiers: chr19:g.45411044_45411045insGGAGACAGAGCC (hg19) ; chr19:g.44907787_44907788insGGAGACAGAGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44907792_44907803dup , CM000681.2:g.44907792_44907803dup	GRCh38
NC_000019.9:g.45411049_45411060dup , CM000681.1:g.45411049_45411060dup	GRCh37
NC_000019.8:g.50102889_50102900dup	NCBI36
NG_007084.2:g.7011_7022dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252486.9:c.76_87dup MANE Select	ENSP00000252486.3:p.Glu29_Pro30insThrGluProGlu
ENST00000252486.8:c.76_87dup	ENSP00000252486.3:p.Glu29_Pro30insThrGluProGlu
ENST00000425718.1:c.76_87dup	ENSP00000410423.1:p.Glu29_Pro30insThrGluProGlu
ENST00000434152.5:c.154_165dup	ENSP00000413653.2:p.Glu55_Pro56insThrGluProGlu
ENST00000446996.5:c.76_87dup	ENSP00000413135.1:p.Glu29_Pro30insThrGluProGlu
NM_000041.3:c.76_87dup	NP_000032.1:p.Glu29_Pro30insThrGluProGlu
NM_001302688.1:c.154_165dup	NP_001289617.1:p.Glu55_Pro56insThrGluProGlu
NM_001302689.1:c.76_87dup	NP_001289618.1:p.Glu29_Pro30insThrGluProGlu
NM_001302690.1:c.76_87dup	NP_001289619.1:p.Glu29_Pro30insThrGluProGlu
NM_001302691.1:c.76_87dup	NP_001289620.1:p.Glu29_Pro30insThrGluProGlu
NM_000041.4:c.76_87dup MANE Select	NP_000032.1:p.Glu29_Pro30insThrGluProGlu
NM_001302688.2:c.154_165dup	NP_001289617.1:p.Glu55_Pro56insThrGluProGlu
NM_001302689.2:c.76_87dup	NP_001289618.1:p.Glu29_Pro30insThrGluProGlu
NM_001302691.2:c.76_87dup	NP_001289620.1:p.Glu29_Pro30insThrGluProGlu
NM_001302690.2:c.76_87dup	NP_001289619.1:p.Glu29_Pro30insThrGluProGlu