Canonical Allele Identifier: CA2616166847

Gene: BACE1

Linked Data

• gnomAD v4: 11-117289017-G-GTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.117289026_117289028dup , CM000673.2:g.117289026_117289028dup	GRCh38
NC_000011.9:g.117159742_117159744dup , CM000673.1:g.117159742_117159744dup	GRCh37
NC_000011.8:g.116664952_116664954dup	NCBI36
NG_029372.1:g.32237_32239dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000313005.11:c.*546_*548dup MANE Select	ENSP00000318585.6:n.*546_*548dup
ENST00000679585.1:n.2495_2497dup
ENST00000680271.1:n.1840_1842dup
ENST00000680681.1:c.*778_*780dup	ENSP00000505419.1:n.*778_*780dup
ENST00000680800.1:n.1858_1860dup
ENST00000680971.1:c.*546_*548dup	ENSP00000506107.1:n.*546_*548dup
ENST00000681714.1:n.1313_1315dup
ENST00000681753.1:n.1255_1257dup
ENST00000313005.10:c.*546_*548dup	ENSP00000318585.6:n.*546_*548dup
ENST00000392937.10:c.*546_*548dup	ENSP00000475405.1:n.*546_*548dup
ENST00000528053.5:c.*546_*548dup	ENSP00000431848.1:n.*546_*548dup
NM_001207048.1:c.*546_*548dup	NP_001193977.1:n.*546_*548dup
NM_001207049.1:c.*546_*548dup	NP_001193978.1:n.*546_*548dup
NM_012104.4:c.*546_*548dup	NP_036236.1:n.*546_*548dup
NM_138971.3:c.*546_*548dup	NP_620427.1:n.*546_*548dup
NM_138972.3:c.*546_*548dup	NP_620428.1:n.*546_*548dup
NM_138973.3:c.*546_*548dup	NP_620429.1:n.*546_*548dup
NM_001207048.2:c.*546_*548dup	NP_001193977.1:n.*546_*548dup
NM_001207049.2:c.*546_*548dup	NP_001193978.1:n.*546_*548dup
NM_001207048.3:c.*546_*548dup	NP_001193977.1:n.*546_*548dup
NM_001207049.3:c.*546_*548dup	NP_001193978.1:n.*546_*548dup
NM_012104.6:c.*546_*548dup MANE Select	NP_036236.1:n.*546_*548dup
NM_138971.4:c.*546_*548dup	NP_620427.1:n.*546_*548dup
NM_138972.4:c.*546_*548dup	NP_620428.1:n.*546_*548dup
NM_138973.4:c.*546_*548dup	NP_620429.1:n.*546_*548dup