Canonical Allele Identifier: CA2793772730
Gene: BACE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.117288994del , CM000673.2:g.117288994del GRCh38
NC_000011.9:g.117159710del , CM000673.1:g.117159710del GRCh37
NC_000011.8:g.116664920del NCBI36
NG_029372.1:g.32267del

Transcript Alleles

HGVS Amino-acid Change
ENST00000313005.11:c.*576del MANE Select ENSP00000318585.6:n.*576del
ENST00000679585.1:n.2525del
ENST00000680271.1:n.1870del
ENST00000680681.1:c.*808del ENSP00000505419.1:n.*808del
ENST00000680800.1:n.1888del
ENST00000680971.1:c.*576del ENSP00000506107.1:n.*576del
ENST00000313005.10:c.*576del ENSP00000318585.6:n.*576del
ENST00000392937.10:c.*576del ENSP00000475405.1:n.*576del
ENST00000528053.5:c.*576del ENSP00000431848.1:n.*576del
NM_001207048.1:c.*576del NP_001193977.1:n.*576del
NM_001207049.1:c.*576del NP_001193978.1:n.*576del
NM_012104.4:c.*576del NP_036236.1:n.*576del
NM_138971.3:c.*576del NP_620427.1:n.*576del
NM_138972.3:c.*576del NP_620428.1:n.*576del
NM_138973.3:c.*576del NP_620429.1:n.*576del
NM_001207048.2:c.*576del NP_001193977.1:n.*576del
NM_001207049.2:c.*576del NP_001193978.1:n.*576del
NM_001207048.3:c.*576del NP_001193977.1:n.*576del
NM_001207049.3:c.*576del NP_001193978.1:n.*576del
NM_012104.6:c.*576del MANE Select NP_036236.1:n.*576del
NM_138971.4:c.*576del NP_620427.1:n.*576del
NM_138972.4:c.*576del NP_620428.1:n.*576del
NM_138973.4:c.*576del NP_620429.1:n.*576del