Canonical Allele Identifier: CA2002974390
Gene: BACE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.117289108_117289109delinsTC , CM000673.2:g.117289108_117289109delinsTC GRCh38
NC_000011.9:g.117159824_117159825delinsTC , CM000673.1:g.117159824_117159825delinsTC GRCh37
NC_000011.8:g.116665034_116665035delinsTC NCBI36
NG_029372.1:g.32148_32149delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000313005.11:c.*457_*458delinsGA MANE Select ENSP00000318585.6:n.*457_*458delinsGA
ENST00000679585.1:n.2406_2407delinsGA
ENST00000680271.1:n.1751_1752delinsGA
ENST00000680681.1:c.*689_*690delinsGA ENSP00000505419.1:n.*689_*690delinsGA
ENST00000680800.1:n.1769_1770delinsGA
ENST00000680971.1:c.*457_*458delinsGA ENSP00000506107.1:n.*457_*458delinsGA
ENST00000681714.1:n.1224_1225delinsGA
ENST00000681753.1:n.1166_1167delinsGA
ENST00000313005.10:c.*457_*458delinsGA ENSP00000318585.6:n.*457_*458delinsGA
ENST00000392937.10:c.*457_*458delinsGA ENSP00000475405.1:n.*457_*458delinsGA
ENST00000528053.5:c.*457_*458delinsGA ENSP00000431848.1:n.*457_*458delinsGA
NM_001207048.1:c.*457_*458delinsGA NP_001193977.1:n.*457_*458delinsGA
NM_001207049.1:c.*457_*458delinsGA NP_001193978.1:n.*457_*458delinsGA
NM_012104.4:c.*457_*458delinsGA NP_036236.1:n.*457_*458delinsGA
NM_138971.3:c.*457_*458delinsGA NP_620427.1:n.*457_*458delinsGA
NM_138972.3:c.*457_*458delinsGA NP_620428.1:n.*457_*458delinsGA
NM_138973.3:c.*457_*458delinsGA NP_620429.1:n.*457_*458delinsGA
NM_001207048.2:c.*457_*458delinsGA NP_001193977.1:n.*457_*458delinsGA
NM_001207049.2:c.*457_*458delinsGA NP_001193978.1:n.*457_*458delinsGA
NM_001207048.3:c.*457_*458delinsGA NP_001193977.1:n.*457_*458delinsGA
NM_001207049.3:c.*457_*458delinsGA NP_001193978.1:n.*457_*458delinsGA
NM_012104.6:c.*457_*458delinsGA MANE Select NP_036236.1:n.*457_*458delinsGA
NM_138971.4:c.*457_*458delinsGA NP_620427.1:n.*457_*458delinsGA
NM_138972.4:c.*457_*458delinsGA NP_620428.1:n.*457_*458delinsGA
NM_138973.4:c.*457_*458delinsGA NP_620429.1:n.*457_*458delinsGA