Canonical Allele Identifier: CA2668411245

Gene: BCHE

Linked Data

• gnomAD v4: 3-165830117-AATGCTTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830120_165830126del , CM000665.2:g.165830120_165830126del	GRCh38
NC_000003.11:g.165547908_165547914del , CM000665.1:g.165547908_165547914del	GRCh37
NC_000003.10:g.167030602_167030608del	NCBI36
NG_009031.1:g.12342_12348del

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.910_916del MANE Select	ENSP00000264381.3:p.Glu304LeufsTer11
ENST00000264381.7:c.910_916del	ENSP00000264381.3:p.Glu304LeufsTer11
ENST00000479451.5:c.107+7190_107+7196del	ENSP00000418325.1:n.107+7190_107+7196del
ENST00000482958.1:c.910_916del	ENSP00000419804.1:p.Glu304LeufsTer11
ENST00000488954.1:c.107+7190_107+7196del	ENSP00000418504.1:n.107+7190_107+7196del
ENST00000497011.5:c.910_916del	ENSP00000419505.1:p.Glu304LeufsTer11
NM_000055.2:c.910_916del	NP_000046.1:p.Glu304LeufsTer11
XM_005247685.1:c.1033_1039del	XP_005247742.1:p.Glu345LeufsTer11
NM_000055.3:c.910_916del	NP_000046.1:p.Glu304LeufsTer11
NR_137635.1:n.159+7190_159+7196del
NR_137636.1:n.1077_1083del
NM_000055.4:c.910_916del MANE Select	NP_000046.1:p.Glu304LeufsTer11
NR_137635.2:n.110+7190_110+7196del
NR_137636.2:n.1028_1034del