Canonical Allele Identifier: CA2002974326

Gene: BACE1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.117288969_117288970delinsTC , CM000673.2:g.117288969_117288970delinsTC	GRCh38
NC_000011.9:g.117159685_117159686delinsTC , CM000673.1:g.117159685_117159686delinsTC	GRCh37
NC_000011.8:g.116664895_116664896delinsTC	NCBI36
NG_029372.1:g.32287_32288delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313005.11:c.*596_*597delinsGA MANE Select	ENSP00000318585.6:n.*596_*597delinsGA
ENST00000679585.1:n.2545_2546delinsGA
ENST00000680271.1:n.1890_1891delinsGA
ENST00000680681.1:c.*828_*829delinsGA	ENSP00000505419.1:n.*828_*829delinsGA
ENST00000680800.1:n.1908_1909delinsGA
ENST00000680971.1:c.*596_*597delinsGA	ENSP00000506107.1:n.*596_*597delinsGA
ENST00000313005.10:c.*596_*597delinsGA	ENSP00000318585.6:n.*596_*597delinsGA
ENST00000392937.10:c.*596_*597delinsGA	ENSP00000475405.1:n.*596_*597delinsGA
ENST00000528053.5:c.*596_*597delinsGA	ENSP00000431848.1:n.*596_*597delinsGA
NM_001207048.1:c.*596_*597delinsGA	NP_001193977.1:n.*596_*597delinsGA
NM_001207049.1:c.*596_*597delinsGA	NP_001193978.1:n.*596_*597delinsGA
NM_012104.4:c.*596_*597delinsGA	NP_036236.1:n.*596_*597delinsGA
NM_138971.3:c.*596_*597delinsGA	NP_620427.1:n.*596_*597delinsGA
NM_138972.3:c.*596_*597delinsGA	NP_620428.1:n.*596_*597delinsGA
NM_138973.3:c.*596_*597delinsGA	NP_620429.1:n.*596_*597delinsGA
NM_001207048.2:c.*596_*597delinsGA	NP_001193977.1:n.*596_*597delinsGA
NM_001207049.2:c.*596_*597delinsGA	NP_001193978.1:n.*596_*597delinsGA
NM_001207048.3:c.*596_*597delinsGA	NP_001193977.1:n.*596_*597delinsGA
NM_001207049.3:c.*596_*597delinsGA	NP_001193978.1:n.*596_*597delinsGA
NM_012104.6:c.*596_*597delinsGA MANE Select	NP_036236.1:n.*596_*597delinsGA
NM_138971.4:c.*596_*597delinsGA	NP_620427.1:n.*596_*597delinsGA
NM_138972.4:c.*596_*597delinsGA	NP_620428.1:n.*596_*597delinsGA
NM_138973.4:c.*596_*597delinsGA	NP_620429.1:n.*596_*597delinsGA