Canonical Allele Identifier: CA87410364

Gene: BCHE

Linked Data

• MyVariant Identifiers: chr3:g.165548385_165548386insC (hg19) ; chr3:g.165830597_165830598insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830597_165830598insC , CM000665.2:g.165830597_165830598insC	GRCh38
NC_000003.11:g.165548385_165548386insC , CM000665.1:g.165548385_165548386insC	GRCh37
NC_000003.10:g.167031079_167031080insC	NCBI36
NG_009031.1:g.11868_11869insG

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.436_437insG MANE Select	ENSP00000264381.3:p.Phe146CysfsTer12
ENST00000264381.7:c.436_437insG	ENSP00000264381.3:p.Phe146CysfsTer12
ENST00000479451.5:c.107+6716_107+6717insG	ENSP00000418325.1:n.107+6716_107+6717insG...
ENST00000482958.1:c.436_437insG	ENSP00000419804.1:p.Phe146CysfsTer12
ENST00000488954.1:c.107+6716_107+6717insG	ENSP00000418504.1:n.107+6716_107+6717insG...
ENST00000497011.5:c.436_437insG	ENSP00000419505.1:p.Phe146CysfsTer12
NM_000055.2:c.436_437insG	NP_000046.1:p.Phe146CysfsTer12
XM_005247685.1:c.559_560insG	XP_005247742.1:p.Phe187CysfsTer12
NM_000055.3:c.436_437insG	NP_000046.1:p.Phe146CysfsTer12
NR_137635.1:n.159+6716_159+6717insG
NR_137636.1:n.603_604insG
NM_000055.4:c.436_437insG MANE Select	NP_000046.1:p.Phe146CysfsTer12
NR_137635.2:n.110+6716_110+6717insG
NR_137636.2:n.554_555insG