Canonical Allele Identifier: CA2616166941

Gene: BACE1

Linked Data

• gnomAD v4: 11-117289126-G-GCT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.117289126_117289127insCT , CM000673.2:g.117289126_117289127insCT	GRCh38
NC_000011.9:g.117159842_117159843insCT , CM000673.1:g.117159842_117159843insCT	GRCh37
NC_000011.8:g.116665052_116665053insCT	NCBI36
NG_029372.1:g.32130_32131insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313005.11:c.*439_*440insAG MANE Select	ENSP00000318585.6:n.*439_*440insAG
ENST00000679585.1:n.2388_2389insAG
ENST00000680271.1:n.1733_1734insAG
ENST00000680681.1:c.*671_*672insAG	ENSP00000505419.1:n.*671_*672insAG
ENST00000680800.1:n.1751_1752insAG
ENST00000680971.1:c.*439_*440insAG	ENSP00000506107.1:n.*439_*440insAG
ENST00000681714.1:n.1206_1207insAG
ENST00000681753.1:n.1148_1149insAG
ENST00000313005.10:c.*439_*440insAG	ENSP00000318585.6:n.*439_*440insAG
ENST00000392937.10:c.*439_*440insAG	ENSP00000475405.1:n.*439_*440insAG
ENST00000528053.5:c.*439_*440insAG	ENSP00000431848.1:n.*439_*440insAG
NM_001207048.1:c.*439_*440insAG	NP_001193977.1:n.*439_*440insAG
NM_001207049.1:c.*439_*440insAG	NP_001193978.1:n.*439_*440insAG
NM_012104.4:c.*439_*440insAG	NP_036236.1:n.*439_*440insAG
NM_138971.3:c.*439_*440insAG	NP_620427.1:n.*439_*440insAG
NM_138972.3:c.*439_*440insAG	NP_620428.1:n.*439_*440insAG
NM_138973.3:c.*439_*440insAG	NP_620429.1:n.*439_*440insAG
NM_001207048.2:c.*439_*440insAG	NP_001193977.1:n.*439_*440insAG
NM_001207049.2:c.*439_*440insAG	NP_001193978.1:n.*439_*440insAG
NM_001207048.3:c.*439_*440insAG	NP_001193977.1:n.*439_*440insAG
NM_001207049.3:c.*439_*440insAG	NP_001193978.1:n.*439_*440insAG
NM_012104.6:c.*439_*440insAG MANE Select	NP_036236.1:n.*439_*440insAG
NM_138971.4:c.*439_*440insAG	NP_620427.1:n.*439_*440insAG
NM_138972.4:c.*439_*440insAG	NP_620428.1:n.*439_*440insAG
NM_138973.4:c.*439_*440insAG	NP_620429.1:n.*439_*440insAG