Canonical Allele Identifier: CA9506019

Gene: APOE

Linked Data

• ClinVar Variation Id: 1210067
• ClinVar RCV Id: RCV001579974 ; RCV001699821
• dbSNP Id: rs377486301
• ExAC: 19:45411770 TCCCG / T
• gnomAD v2: 19-45411770-TCCCG-T
• gnomAD v3: 19-44908513-TCCCG-T
• gnomAD v4: 19-44908513-TCCCG-T
• MyVariant Identifiers: chr19:g.45411771_45411774del (hg19) ; chr19:g.44908515_44908518del (hg38) ; chr19:g.44908514_44908517del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44908517_44908520del , CM000681.2:g.44908517_44908520del	GRCh38
NC_000019.9:g.45411774_45411777del , CM000681.1:g.45411774_45411777del	GRCh37
NC_000019.8:g.50103614_50103617del	NCBI36
NG_007084.2:g.7736_7739del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252486.9:c.237-16_237-13del MANE Select	ENSP00000252486.3:n.237-16_237-13del
ENST00000252486.8:c.237-16_237-13del	ENSP00000252486.3:n.237-16_237-13del
ENST00000425718.1:c.237-16_237-13del	ENSP00000410423.1:n.237-16_237-13del
ENST00000434152.5:c.315-16_315-13del	ENSP00000413653.2:n.315-16_315-13del
ENST00000446996.5:c.237-16_237-13del	ENSP00000413135.1:n.237-16_237-13del
NM_000041.3:c.237-16_237-13del	NP_000032.1:n.237-16_237-13del
NM_001302688.1:c.315-16_315-13del	NP_001289617.1:n.315-16_315-13del
NM_001302689.1:c.237-16_237-13del	NP_001289618.1:n.237-16_237-13del
NM_001302690.1:c.237-16_237-13del	NP_001289619.1:n.237-16_237-13del
NM_001302691.1:c.237-16_237-13del	NP_001289620.1:n.237-16_237-13del
NM_000041.4:c.237-16_237-13del MANE Select	NP_000032.1:n.237-16_237-13del
NM_001302688.2:c.315-16_315-13del	NP_001289617.1:n.315-16_315-13del
NM_001302689.2:c.237-16_237-13del	NP_001289618.1:n.237-16_237-13del
NM_001302691.2:c.237-16_237-13del	NP_001289620.1:n.237-16_237-13del
NM_001302690.2:c.237-16_237-13del	NP_001289619.1:n.237-16_237-13del