Canonical Allele Identifier: CA2510558622

Gene: APOE

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44908826_44908827insTCTACGTGATATGCTTTTTCACCAGAACCACCATTTAGAATTTCTTCTAATTTATTATATTGATCTAACATCCATTCGATGTAAGTTTTTCCGTCT , CM000681.2:g.44908826_44908827insTCTACGTGATATGCTTTTTCACCAGAACCACCATTTAGAATTTCTTCTAATTTATTATATTGATCTAACATCCATTCGATGTAAGTTTTTCCGTCT	GRCh38
NC_000019.9:g.45412083_45412084insTCTACGTGATATGCTTTTTCACCAGAACCACCATTTAGAATTTCTTCTAATTTATTATATTGATCTAACATCCATTCGATGTAAGTTTTTCCGTCT , CM000681.1:g.45412083_45412084insTCTACGTGATATGCTTTTTCACCAGAACCACCATTTAGAATTTCTTCTAATTTATTATATTGATCTAACATCCATTCGATGTAAGTTTTTCCGTCT	GRCh37
NC_000019.8:g.50103923_50103924insTCTACGTGATATGCTTTTTCACCAGAACCACCATTTAGAATTTCTTCTAATTTATTATATTGATCTAACATCCATTCGATGTAAGTTTTTCCGTCT	NCBI36
NG_007084.2:g.8045_8046insTCTACGTGATATGCTTTTTCACCAGAACCACCATTTAGAATTTCTTCTAATTTATTATATTGATCTAACATCCATTCGATGTAAGTTTTTCCGTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252486.9:c.530_531insTCTACGTGATATGCTTTTTCACCAGAACCACCATTTAGAATTTCTTCTAATTTATTATATTGATCTAACATCCATTCGATGTAAGTTTTTCCGTCT MANE Select	ENSP00000252486.3:p.Leu177_Ala178insLeuArgAspMetLeuPheHisGlnA...
ENST00000252486.8:c.530_531insTCTACGTGATATGCTTTTTCACCAGAACCACCATTTAGAATTTCTTCTAATTTATTATATTGATCTAACATCCATTCGATGTAAGTTTTTCCGTCT	ENSP00000252486.3:p.Leu177_Ala178insLeuArgAspMetLeuPheHisGlnA...
ENST00000425718.1:c.530_531insTCTACGTGATATGCTTTTTCACCAGAACCACCATTTAGAATTTCTTCTAATTTATTATATTGATCTAACATCCATTCGATGTAAGTTTTTCCGTCT	ENSP00000410423.1:p.Leu177_Ala178insLeuArgAspMetLeuPheHisGlnA...
ENST00000434152.5:c.608_609insTCTACGTGATATGCTTTTTCACCAGAACCACCATTTAGAATTTCTTCTAATTTATTATATTGATCTAACATCCATTCGATGTAAGTTTTTCCGTCT	ENSP00000413653.2:p.Leu203_Ala204insLeuArgAspMetLeuPheHisGlnA...
ENST00000446996.5:c.530_531insTCTACGTGATATGCTTTTTCACCAGAACCACCATTTAGAATTTCTTCTAATTTATTATATTGATCTAACATCCATTCGATGTAAGTTTTTCCGTCT	ENSP00000413135.1:p.Leu177_Ala178insLeuArgAspMetLeuPheHisGlnA...
NM_000041.3:c.530_531insTCTACGTGATATGCTTTTTCACCAGAACCACCATTTAGAATTTCTTCTAATTTATTATATTGATCTAACATCCATTCGATGTAAGTTTTTCCGTCT	NP_000032.1:p.Leu177_Ala178insLeuArgAspMetLeuPheHisGlnAsnHisH...
NM_001302688.1:c.608_609insTCTACGTGATATGCTTTTTCACCAGAACCACCATTTAGAATTTCTTCTAATTTATTATATTGATCTAACATCCATTCGATGTAAGTTTTTCCGTCT	NP_001289617.1:p.Leu203_Ala204insLeuArgAspMetLeuPheHisGlnAsnH...
NM_001302689.1:c.530_531insTCTACGTGATATGCTTTTTCACCAGAACCACCATTTAGAATTTCTTCTAATTTATTATATTGATCTAACATCCATTCGATGTAAGTTTTTCCGTCT	NP_001289618.1:p.Leu177_Ala178insLeuArgAspMetLeuPheHisGlnAsnH...
NM_001302690.1:c.530_531insTCTACGTGATATGCTTTTTCACCAGAACCACCATTTAGAATTTCTTCTAATTTATTATATTGATCTAACATCCATTCGATGTAAGTTTTTCCGTCT	NP_001289619.1:p.Leu177_Ala178insLeuArgAspMetLeuPheHisGlnAsnH...
NM_001302691.1:c.530_531insTCTACGTGATATGCTTTTTCACCAGAACCACCATTTAGAATTTCTTCTAATTTATTATATTGATCTAACATCCATTCGATGTAAGTTTTTCCGTCT	NP_001289620.1:p.Leu177_Ala178insLeuArgAspMetLeuPheHisGlnAsnH...
NM_000041.4:c.530_531insTCTACGTGATATGCTTTTTCACCAGAACCACCATTTAGAATTTCTTCTAATTTATTATATTGATCTAACATCCATTCGATGTAAGTTTTTCCGTCT MANE Select	NP_000032.1:p.Leu177_Ala178insLeuArgAspMetLeuPheHisGlnAsnHisH...
NM_001302688.2:c.608_609insTCTACGTGATATGCTTTTTCACCAGAACCACCATTTAGAATTTCTTCTAATTTATTATATTGATCTAACATCCATTCGATGTAAGTTTTTCCGTCT	NP_001289617.1:p.Leu203_Ala204insLeuArgAspMetLeuPheHisGlnAsnH...
NM_001302689.2:c.530_531insTCTACGTGATATGCTTTTTCACCAGAACCACCATTTAGAATTTCTTCTAATTTATTATATTGATCTAACATCCATTCGATGTAAGTTTTTCCGTCT	NP_001289618.1:p.Leu177_Ala178insLeuArgAspMetLeuPheHisGlnAsnH...
NM_001302691.2:c.530_531insTCTACGTGATATGCTTTTTCACCAGAACCACCATTTAGAATTTCTTCTAATTTATTATATTGATCTAACATCCATTCGATGTAAGTTTTTCCGTCT	NP_001289620.1:p.Leu177_Ala178insLeuArgAspMetLeuPheHisGlnAsnH...
NM_001302690.2:c.530_531insTCTACGTGATATGCTTTTTCACCAGAACCACCATTTAGAATTTCTTCTAATTTATTATATTGATCTAACATCCATTCGATGTAAGTTTTTCCGTCT	NP_001289619.1:p.Leu177_Ala178insLeuArgAspMetLeuPheHisGlnAsnH...