Canonical Allele Identifier: CA2616166906

Gene: BACE1

Linked Data

• gnomAD v4: 11-117289101-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.117289104_117289105del , CM000673.2:g.117289104_117289105del	GRCh38
NC_000011.9:g.117159820_117159821del , CM000673.1:g.117159820_117159821del	GRCh37
NC_000011.8:g.116665030_116665031del	NCBI36
NG_029372.1:g.32154_32155del

Transcript Alleles

HGVS	Amino-acid change
ENST00000313005.11:c.*463_*464del MANE Select	ENSP00000318585.6:n.*463_*464del
ENST00000679585.1:n.2412_2413del
ENST00000680271.1:n.1757_1758del
ENST00000680681.1:c.*695_*696del	ENSP00000505419.1:n.*695_*696del
ENST00000680800.1:n.1775_1776del
ENST00000680971.1:c.*463_*464del	ENSP00000506107.1:n.*463_*464del
ENST00000681714.1:n.1230_1231del
ENST00000681753.1:n.1172_1173del
ENST00000313005.10:c.*463_*464del	ENSP00000318585.6:n.*463_*464del
ENST00000392937.10:c.*463_*464del	ENSP00000475405.1:n.*463_*464del
ENST00000528053.5:c.*463_*464del	ENSP00000431848.1:n.*463_*464del
NM_001207048.1:c.*463_*464del	NP_001193977.1:n.*463_*464del
NM_001207049.1:c.*463_*464del	NP_001193978.1:n.*463_*464del
NM_012104.4:c.*463_*464del	NP_036236.1:n.*463_*464del
NM_138971.3:c.*463_*464del	NP_620427.1:n.*463_*464del
NM_138972.3:c.*463_*464del	NP_620428.1:n.*463_*464del
NM_138973.3:c.*463_*464del	NP_620429.1:n.*463_*464del
NM_001207048.2:c.*463_*464del	NP_001193977.1:n.*463_*464del
NM_001207049.2:c.*463_*464del	NP_001193978.1:n.*463_*464del
NM_001207048.3:c.*463_*464del	NP_001193977.1:n.*463_*464del
NM_001207049.3:c.*463_*464del	NP_001193978.1:n.*463_*464del
NM_012104.6:c.*463_*464del MANE Select	NP_036236.1:n.*463_*464del
NM_138971.4:c.*463_*464del	NP_620427.1:n.*463_*464del
NM_138972.4:c.*463_*464del	NP_620428.1:n.*463_*464del
NM_138973.4:c.*463_*464del	NP_620429.1:n.*463_*464del