Canonical Allele Identifier: CA229358593

Gene: BACE1

Linked Data

• dbSNP Id: rs950908181
• gnomAD v3: 11-117289000-TATAA-T
• gnomAD v4: 11-117289000-TATAA-T
• MyVariant Identifiers: chr11:g.117159717_117159720del (hg19) ; chr11:g.117289001_117289004del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.117289004_117289007del , CM000673.2:g.117289004_117289007del	GRCh38
NC_000011.9:g.117159720_117159723del , CM000673.1:g.117159720_117159723del	GRCh37
NC_000011.8:g.116664930_116664933del	NCBI36
NG_029372.1:g.32253_32256del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313005.11:c.*562_*565del MANE Select	ENSP00000318585.6:n.*562_*565del
ENST00000679585.1:n.2511_2514del
ENST00000680271.1:n.1856_1859del
ENST00000680681.1:c.*794_*797del	ENSP00000505419.1:n.*794_*797del
ENST00000680800.1:n.1874_1877del
ENST00000680971.1:c.*562_*565del	ENSP00000506107.1:n.*562_*565del
ENST00000313005.10:c.*562_*565del	ENSP00000318585.6:n.*562_*565del
ENST00000392937.10:c.*562_*565del	ENSP00000475405.1:n.*562_*565del
ENST00000528053.5:c.*562_*565del	ENSP00000431848.1:n.*562_*565del
NM_001207048.1:c.*562_*565del	NP_001193977.1:n.*562_*565del
NM_001207049.1:c.*562_*565del	NP_001193978.1:n.*562_*565del
NM_012104.4:c.*562_*565del	NP_036236.1:n.*562_*565del
NM_138971.3:c.*562_*565del	NP_620427.1:n.*562_*565del
NM_138972.3:c.*562_*565del	NP_620428.1:n.*562_*565del
NM_138973.3:c.*562_*565del	NP_620429.1:n.*562_*565del
NM_001207048.2:c.*562_*565del	NP_001193977.1:n.*562_*565del
NM_001207049.2:c.*562_*565del	NP_001193978.1:n.*562_*565del
NM_001207048.3:c.*562_*565del	NP_001193977.1:n.*562_*565del
NM_001207049.3:c.*562_*565del	NP_001193978.1:n.*562_*565del
NM_012104.6:c.*562_*565del MANE Select	NP_036236.1:n.*562_*565del
NM_138971.4:c.*562_*565del	NP_620427.1:n.*562_*565del
NM_138972.4:c.*562_*565del	NP_620428.1:n.*562_*565del
NM_138973.4:c.*562_*565del	NP_620429.1:n.*562_*565del