Canonical Allele Identifier: CA2692444

Gene: BCHE

Linked Data

• dbSNP Id: rs747037935
• ExAC: 3:165548101 T / TC
• gnomAD v2: 3-165548101-T-TC
• MyVariant Identifiers: chr3:g.165548101_165548102insC (hg19) ; chr3:g.165830313_165830314insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830313_165830314insC , CM000665.2:g.165830313_165830314insC	GRCh38
NC_000003.11:g.165548101_165548102insC , CM000665.1:g.165548101_165548102insC	GRCh37
NC_000003.10:g.167030795_167030796insC	NCBI36
NG_009031.1:g.12152_12153insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.720_721insG MANE Select	ENSP00000264381.3:p.Ser241GlufsTer16
ENST00000264381.7:c.720_721insG	ENSP00000264381.3:p.Ser241GlufsTer16
ENST00000479451.5:c.107+7000_107+7001insG	ENSP00000418325.1:n.107+7000_107+7001insG
ENST00000482958.1:c.720_721insG	ENSP00000419804.1:p.Ser241GlufsTer16
ENST00000488954.1:c.107+7000_107+7001insG	ENSP00000418504.1:n.107+7000_107+7001insG
ENST00000497011.5:c.720_721insG	ENSP00000419505.1:p.Ser241GlufsTer16
NM_000055.2:c.720_721insG	NP_000046.1:p.Ser241GlufsTer16
XM_005247685.1:c.843_844insG	XP_005247742.1:p.Ser282GlufsTer16
NM_000055.3:c.720_721insG	NP_000046.1:p.Ser241GlufsTer16
NR_137635.1:n.159+7000_159+7001insG
NR_137636.1:n.887_888insG
NM_000055.4:c.720_721insG MANE Select	NP_000046.1:p.Ser241GlufsTer16
NR_137635.2:n.110+7000_110+7001insG
NR_137636.2:n.838_839insG