Canonical Allele Identifier: CA87410366

Gene: BCHE

Linked Data

• dbSNP Id: rs55703238
• MyVariant Identifiers: chr3:g.165548387_165548388insT (hg19) ; chr3:g.165830599_165830600insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830599_165830600insT , CM000665.2:g.165830599_165830600insT	GRCh38
NC_000003.11:g.165548387_165548388insT , CM000665.1:g.165548387_165548388insT	GRCh37
NC_000003.10:g.167031081_167031082insT	NCBI36
NG_009031.1:g.11866_11867insA

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.434_435insA MANE Select	ENSP00000264381.3:p.Gln147SerfsTer11
ENST00000264381.7:c.434_435insA	ENSP00000264381.3:p.Gln147SerfsTer11
ENST00000479451.5:c.107+6714_107+6715insA	ENSP00000418325.1:n.107+6714_107+6715insA...
ENST00000482958.1:c.434_435insA	ENSP00000419804.1:p.Gln147SerfsTer11
ENST00000488954.1:c.107+6714_107+6715insA	ENSP00000418504.1:n.107+6714_107+6715insA...
ENST00000497011.5:c.434_435insA	ENSP00000419505.1:p.Gln147SerfsTer11
NM_000055.2:c.434_435insA	NP_000046.1:p.Gln147SerfsTer11
XM_005247685.1:c.557_558insA	XP_005247742.1:p.Gln188SerfsTer11
NM_000055.3:c.434_435insA	NP_000046.1:p.Gln147SerfsTer11
NR_137635.1:n.159+6714_159+6715insA
NR_137636.1:n.601_602insA
NM_000055.4:c.434_435insA MANE Select	NP_000046.1:p.Gln147SerfsTer11
NR_137635.2:n.110+6714_110+6715insA
NR_137636.2:n.552_553insA