Canonical Allele Identifier: CA942660424

Gene: BACE1

Linked Data

• gnomAD v3: 11-117289028-TAA-T
• gnomAD v4: 11-117289028-TAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.117289029_117289030del , CM000673.2:g.117289029_117289030del	GRCh38
NC_000011.9:g.117159745_117159746del , CM000673.1:g.117159745_117159746del	GRCh37
NC_000011.8:g.116664955_116664956del	NCBI36
NG_029372.1:g.32227_32228del

Transcript Alleles

HGVS	Amino-acid change
ENST00000313005.11:c.*536_*537del MANE Select	ENSP00000318585.6:n.*536_*537del
ENST00000679585.1:n.2485_2486del
ENST00000680271.1:n.1830_1831del
ENST00000680681.1:c.*768_*769del	ENSP00000505419.1:n.*768_*769del
ENST00000680800.1:n.1848_1849del
ENST00000680971.1:c.*536_*537del	ENSP00000506107.1:n.*536_*537del
ENST00000681714.1:n.1303_1304del
ENST00000681753.1:n.1245_1246del
ENST00000313005.10:c.*536_*537del	ENSP00000318585.6:n.*536_*537del
ENST00000392937.10:c.*536_*537del	ENSP00000475405.1:n.*536_*537del
ENST00000528053.5:c.*536_*537del	ENSP00000431848.1:n.*536_*537del
NM_001207048.1:c.*536_*537del	NP_001193977.1:n.*536_*537del
NM_001207049.1:c.*536_*537del	NP_001193978.1:n.*536_*537del
NM_012104.4:c.*536_*537del	NP_036236.1:n.*536_*537del
NM_138971.3:c.*536_*537del	NP_620427.1:n.*536_*537del
NM_138972.3:c.*536_*537del	NP_620428.1:n.*536_*537del
NM_138973.3:c.*536_*537del	NP_620429.1:n.*536_*537del
NM_001207048.2:c.*536_*537del	NP_001193977.1:n.*536_*537del
NM_001207049.2:c.*536_*537del	NP_001193978.1:n.*536_*537del
NM_001207048.3:c.*536_*537del	NP_001193977.1:n.*536_*537del
NM_001207049.3:c.*536_*537del	NP_001193978.1:n.*536_*537del
NM_012104.6:c.*536_*537del MANE Select	NP_036236.1:n.*536_*537del
NM_138971.4:c.*536_*537del	NP_620427.1:n.*536_*537del
NM_138972.4:c.*536_*537del	NP_620428.1:n.*536_*537del
NM_138973.4:c.*536_*537del	NP_620429.1:n.*536_*537del