Canonical Allele Identifier: CA2002974384

Gene: BACE1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.117289089_117289090delinsGC , CM000673.2:g.117289089_117289090delinsGC	GRCh38
NC_000011.9:g.117159805_117159806delinsGC , CM000673.1:g.117159805_117159806delinsGC	GRCh37
NC_000011.8:g.116665015_116665016delinsGC	NCBI36
NG_029372.1:g.32167_32168delinsGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000313005.11:c.*476_*477delinsGC MANE Select	ENSP00000318585.6:n.*476_*477delinsGC
ENST00000679585.1:n.2425_2426delinsGC
ENST00000680271.1:n.1770_1771delinsGC
ENST00000680681.1:c.*708_*709delinsGC	ENSP00000505419.1:n.*708_*709delinsGC
ENST00000680800.1:n.1788_1789delinsGC
ENST00000680971.1:c.*476_*477delinsGC	ENSP00000506107.1:n.*476_*477delinsGC
ENST00000681714.1:n.1243_1244delinsGC
ENST00000681753.1:n.1185_1186delinsGC
ENST00000313005.10:c.*476_*477delinsGC	ENSP00000318585.6:n.*476_*477delinsGC
ENST00000392937.10:c.*476_*477delinsGC	ENSP00000475405.1:n.*476_*477delinsGC
ENST00000528053.5:c.*476_*477delinsGC	ENSP00000431848.1:n.*476_*477delinsGC
NM_001207048.1:c.*476_*477delinsGC	NP_001193977.1:n.*476_*477delinsGC
NM_001207049.1:c.*476_*477delinsGC	NP_001193978.1:n.*476_*477delinsGC
NM_012104.4:c.*476_*477delinsGC	NP_036236.1:n.*476_*477delinsGC
NM_138971.3:c.*476_*477delinsGC	NP_620427.1:n.*476_*477delinsGC
NM_138972.3:c.*476_*477delinsGC	NP_620428.1:n.*476_*477delinsGC
NM_138973.3:c.*476_*477delinsGC	NP_620429.1:n.*476_*477delinsGC
NM_001207048.2:c.*476_*477delinsGC	NP_001193977.1:n.*476_*477delinsGC
NM_001207049.2:c.*476_*477delinsGC	NP_001193978.1:n.*476_*477delinsGC
NM_001207048.3:c.*476_*477delinsGC	NP_001193977.1:n.*476_*477delinsGC
NM_001207049.3:c.*476_*477delinsGC	NP_001193978.1:n.*476_*477delinsGC
NM_012104.6:c.*476_*477delinsGC MANE Select	NP_036236.1:n.*476_*477delinsGC
NM_138971.4:c.*476_*477delinsGC	NP_620427.1:n.*476_*477delinsGC
NM_138972.4:c.*476_*477delinsGC	NP_620428.1:n.*476_*477delinsGC
NM_138973.4:c.*476_*477delinsGC	NP_620429.1:n.*476_*477delinsGC