Canonical Allele Identifier: CA633478354

Gene: APOE

Linked Data

• dbSNP Id: rs1276310546
• gnomAD v2: 19-45411872-A-ACGCGGGCACGGCTGTCCAAGGAGCTGCAGGCGG
• gnomAD v3: 19-44908615-A-ACGCGGGCACGGCTGTCCAAGGAGCTGCAGGCGG
• gnomAD v4: 19-44908615-A-ACGCGGGCACGGCTGTCCAAGGAGCTGCAGGCGG
• MyVariant Identifiers: chr19:g.45411872_45411873insCGCGGGCACGGCTGTCCAAGGAGCTGCAGGCGG (hg19) ; chr19:g.44908615_44908616insCGCGGGCACGGCTGTCCAAGGAGCTGCAGGCGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44908619_44908651dup , CM000681.2:g.44908619_44908651dup	GRCh38
NC_000019.9:g.45411876_45411908dup , CM000681.1:g.45411876_45411908dup	GRCh37
NC_000019.8:g.50103716_50103748dup	NCBI36
NG_007084.2:g.7838_7870dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000252486.9:c.323_355dup MANE Select	ENSP00000252486.3:p.Ala118_Gln119insArgAlaArgLeuSerLysGluLeuG...
ENST00000252486.8:c.323_355dup	ENSP00000252486.3:p.Ala118_Gln119insArgAlaArgLeuSerLysGluLeuG...
ENST00000425718.1:c.323_355dup	ENSP00000410423.1:p.Ala118_Gln119insArgAlaArgLeuSerLysGluLeuG...
ENST00000434152.5:c.401_433dup	ENSP00000413653.2:p.Ala144_Gln145insArgAlaArgLeuSerLysGluLeuG...
ENST00000446996.5:c.323_355dup	ENSP00000413135.1:p.Ala118_Gln119insArgAlaArgLeuSerLysGluLeuG...
NM_000041.3:c.323_355dup	NP_000032.1:p.Ala118_Gln119insArgAlaArgLeuSerLysGluLeuGlnAlaA...
NM_001302688.1:c.401_433dup	NP_001289617.1:p.Ala144_Gln145insArgAlaArgLeuSerLysGluLeuGlnA...
NM_001302689.1:c.323_355dup	NP_001289618.1:p.Ala118_Gln119insArgAlaArgLeuSerLysGluLeuGlnA...
NM_001302690.1:c.323_355dup	NP_001289619.1:p.Ala118_Gln119insArgAlaArgLeuSerLysGluLeuGlnA...
NM_001302691.1:c.323_355dup	NP_001289620.1:p.Ala118_Gln119insArgAlaArgLeuSerLysGluLeuGlnA...
NM_000041.4:c.323_355dup MANE Select	NP_000032.1:p.Ala118_Gln119insArgAlaArgLeuSerLysGluLeuGlnAlaA...
NM_001302688.2:c.401_433dup	NP_001289617.1:p.Ala144_Gln145insArgAlaArgLeuSerLysGluLeuGlnA...
NM_001302689.2:c.323_355dup	NP_001289618.1:p.Ala118_Gln119insArgAlaArgLeuSerLysGluLeuGlnA...
NM_001302691.2:c.323_355dup	NP_001289620.1:p.Ala118_Gln119insArgAlaArgLeuSerLysGluLeuGlnA...
NM_001302690.2:c.323_355dup	NP_001289619.1:p.Ala118_Gln119insArgAlaArgLeuSerLysGluLeuGlnA...