Canonical Allele Identifier: CA2580616004

Gene: BCHE

Linked Data

• ClinVar Variation Id: 2501206
• ClinVar RCV Id: RCV003226803

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165829868_165829871dup , CM000665.2:g.165829868_165829871dup	GRCh38
NC_000003.11:g.165547656_165547659dup , CM000665.1:g.165547656_165547659dup	GRCh37
NC_000003.10:g.167030350_167030353dup	NCBI36
NG_009031.1:g.12603_12606dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1171_1174dup MANE Select	ENSP00000264381.3:p.Phe392Ter
ENST00000264381.7:c.1171_1174dup	ENSP00000264381.3:p.Phe392Ter
ENST00000479451.5:c.107+7451_107+7454dup	ENSP00000418325.1:n.107+7451_107+7454dup
ENST00000482958.1:c.1171_1174dup	ENSP00000419804.1:p.Phe392Ter
ENST00000488954.1:c.107+7451_107+7454dup	ENSP00000418504.1:n.107+7451_107+7454dup
ENST00000497011.5:c.1171_1174dup	ENSP00000419505.1:p.Phe392Ter
NM_000055.2:c.1171_1174dup	NP_000046.1:p.Phe392Ter
XM_005247685.1:c.1294_1297dup	XP_005247742.1:p.Phe433Ter
NM_000055.3:c.1171_1174dup	NP_000046.1:p.Phe392Ter
NR_137635.1:n.159+7451_159+7454dup
NR_137636.1:n.1338_1341dup
NM_000055.4:c.1171_1174dup MANE Select	NP_000046.1:p.Phe392Ter
NR_137635.2:n.110+7451_110+7454dup
NR_137636.2:n.1289_1292dup