Canonical Allele Identifier: CA902056274

Gene: BCHE

Linked Data

• dbSNP Id: rs1191754863
• MyVariant Identifiers: chr3:g.165516361_165516362insGTGAATTT (hg19) ; chr3:g.165798573_165798574insGTGAATTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165798574_165798581dup , CM000665.2:g.165798574_165798581dup	GRCh38
NC_000003.11:g.165516362_165516369dup , CM000665.1:g.165516362_165516369dup	GRCh37
NC_000003.10:g.166999056_166999063dup	NCBI36
NG_009031.1:g.43885_43892dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.1518-12270_1518-12263dup MANE Select	ENSP00000264381.3:n.1518-12270_1518-12263...
ENST00000264381.7:c.1518-12270_1518-12263dup	ENSP00000264381.3:n.1518-12270_1518-12263...
ENST00000479451.5:c.108-12270_108-12263dup	ENSP00000418325.1:n.108-12270_108-12263du...
ENST00000482958.1:c.*24-12270_*24-12263dup	ENSP00000419804.1:n.*24-12270_*24-12263du...
ENST00000488954.1:c.108-12270_108-12263dup	ENSP00000418504.1:n.108-12270_108-12263du...
ENST00000497011.5:c.1518-12270_1518-12263dup	ENSP00000419505.1:n.1518-12270_1518-12263...
NM_000055.2:c.1518-12270_1518-12263dup	NP_000046.1:n.1518-12270_1518-12263dup
XM_005247685.1:c.1641-12270_1641-12263dup	XP_005247742.1:n.1641-12270_1641-12263dup...
NM_000055.3:c.1518-12270_1518-12263dup	NP_000046.1:n.1518-12270_1518-12263dup
NR_137635.1:n.160-12270_160-12263dup
NR_137636.1:n.1685-12270_1685-12263dup
NM_000055.4:c.1518-12270_1518-12263dup MANE Select	NP_000046.1:n.1518-12270_1518-12263dup
NR_137635.2:n.111-12270_111-12263dup
NR_137636.2:n.1636-12270_1636-12263dup