Canonical Allele Identifier: CA436968265

Gene: BCHE

Linked Data

• MyVariant Identifiers: chr3:g.165547408_165547409insATGT (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165829620_165829621insATGT , CM000665.2:g.165829620_165829621insATGT	GRCh38
NC_000003.11:g.165547408_165547409insATGT , CM000665.1:g.165547408_165547409insATGT	GRCh37
NC_000003.10:g.167030102_167030103insATGT	NCBI36
NG_009031.1:g.12845_12846insACAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1413_1414insACAT MANE Select	ENSP00000264381.3:p.Phe472ThrfsTer13
ENST00000264381.7:c.1413_1414insACAT	ENSP00000264381.3:p.Phe472ThrfsTer13
ENST00000479451.5:c.107+7693_107+7694insACAT	ENSP00000418325.1:n.107+7693_107+7694insACAT
ENST00000482958.1:c.1413_1414insACAT	ENSP00000419804.1:p.Phe472ThrfsTer13
ENST00000488954.1:c.107+7693_107+7694insACAT	ENSP00000418504.1:n.107+7693_107+7694insACAT
ENST00000497011.5:c.1413_1414insACAT	ENSP00000419505.1:p.Phe472ThrfsTer13
NM_000055.2:c.1413_1414insACAT	NP_000046.1:p.Phe472ThrfsTer13
XM_005247685.1:c.1536_1537insACAT	XP_005247742.1:p.Phe513ThrfsTer13
NM_000055.3:c.1413_1414insACAT	NP_000046.1:p.Phe472ThrfsTer13
NR_137635.1:n.159+7693_159+7694insACAT
NR_137636.1:n.1580_1581insACAT
NM_000055.4:c.1413_1414insACAT MANE Select	NP_000046.1:p.Phe472ThrfsTer13
NR_137635.2:n.110+7693_110+7694insACAT
NR_137636.2:n.1531_1532insACAT