Canonical Allele Identifier: CA2002974322

Gene: BACE1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.117288965_117288967delinsCCT , CM000673.2:g.117288965_117288967delinsCCT	GRCh38
NC_000011.9:g.117159681_117159683delinsCCT , CM000673.1:g.117159681_117159683delinsCCT	GRCh37
NC_000011.8:g.116664891_116664893delinsCCT	NCBI36
NG_029372.1:g.32290_32292delinsAGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000313005.11:c.*599_*601delinsAGG MANE Select	ENSP00000318585.6:n.*599_*601delinsAGG
ENST00000679585.1:n.2548_2550delinsAGG
ENST00000680271.1:n.1893_1895delinsAGG
ENST00000680681.1:c.*831_*833delinsAGG	ENSP00000505419.1:n.*831_*833delinsAGG
ENST00000680800.1:n.1911_1913delinsAGG
ENST00000680971.1:c.*599_*601delinsAGG	ENSP00000506107.1:n.*599_*601delinsAGG
ENST00000313005.10:c.*599_*601delinsAGG	ENSP00000318585.6:n.*599_*601delinsAGG
ENST00000392937.10:c.*599_*601delinsAGG	ENSP00000475405.1:n.*599_*601delinsAGG
ENST00000528053.5:c.*599_*601delinsAGG	ENSP00000431848.1:n.*599_*601delinsAGG
NM_001207048.1:c.*599_*601delinsAGG	NP_001193977.1:n.*599_*601delinsAGG
NM_001207049.1:c.*599_*601delinsAGG	NP_001193978.1:n.*599_*601delinsAGG
NM_012104.4:c.*599_*601delinsAGG	NP_036236.1:n.*599_*601delinsAGG
NM_138971.3:c.*599_*601delinsAGG	NP_620427.1:n.*599_*601delinsAGG
NM_138972.3:c.*599_*601delinsAGG	NP_620428.1:n.*599_*601delinsAGG
NM_138973.3:c.*599_*601delinsAGG	NP_620429.1:n.*599_*601delinsAGG
NM_001207048.2:c.*599_*601delinsAGG	NP_001193977.1:n.*599_*601delinsAGG
NM_001207049.2:c.*599_*601delinsAGG	NP_001193978.1:n.*599_*601delinsAGG
NM_001207048.3:c.*599_*601delinsAGG	NP_001193977.1:n.*599_*601delinsAGG
NM_001207049.3:c.*599_*601delinsAGG	NP_001193978.1:n.*599_*601delinsAGG
NM_012104.6:c.*599_*601delinsAGG MANE Select	NP_036236.1:n.*599_*601delinsAGG
NM_138971.4:c.*599_*601delinsAGG	NP_620427.1:n.*599_*601delinsAGG
NM_138972.4:c.*599_*601delinsAGG	NP_620428.1:n.*599_*601delinsAGG
NM_138973.4:c.*599_*601delinsAGG	NP_620429.1:n.*599_*601delinsAGG