Canonical Allele Identifier: CA1417711920

Gene: BCHE

Linked Data

• dbSNP Id: rs1400974599

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165786424_165786425insAAAAATTTAAAAAAAAAAAA , CM000665.2:g.165786424_165786425insAAAAATTTAAAAAAAAAAAA	GRCh38
NC_000003.11:g.165504212_165504213insAAAAATTTAAAAAAAAAAAA , CM000665.1:g.165504212_165504213insAAAAATTTAAAAAAAAAAAA	GRCh37
NC_000003.10:g.166986906_166986907insAAAAATTTAAAAAAAAAAAA	NCBI36
NG_009031.1:g.56047_56048insTTTTTTAAATTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1518-108_1518-107insTTTTTTAAATTTTTTTTTTT MANE Select	ENSP00000264381.3:n.1518-108_1518-107insTTTTTTAAATTTTTTTTTTT
ENST00000264381.7:c.1518-108_1518-107insTTTTTTAAATTTTTTTTTTT	ENSP00000264381.3:n.1518-108_1518-107insTTTTTTAAATTTTTTTTTTT
ENST00000479451.5:c.108-108_108-107insTTTTTTAAATTTTTTTTTTT	ENSP00000418325.1:n.108-108_108-107insTTTTTTAAATTTTTTTTTTT
ENST00000482958.1:c.*24-108_*24-107insTTTTTTAAATTTTTTTTTTT	ENSP00000419804.1:n.*24-108_*24-107insTTTTTTAAATTTTTTTTTTT
ENST00000488954.1:c.108-108_108-107insTTTTTTAAATTTTTTTTTTT	ENSP00000418504.1:n.108-108_108-107insTTTTTTAAATTTTTTTTTTT
ENST00000497011.5:c.1518-108_1518-107insTTTTTTAAATTTTTTTTTTT	ENSP00000419505.1:n.1518-108_1518-107insTTTTTTAAATTTTTTTTTTT
NM_000055.2:c.1518-108_1518-107insTTTTTTAAATTTTTTTTTTT	NP_000046.1:n.1518-108_1518-107insTTTTTTAAATTTTTTTTTTT
XM_005247685.1:c.1641-108_1641-107insTTTTTTAAATTTTTTTTTTT	XP_005247742.1:n.1641-108_1641-107insTTTTTTAAATTTTTTTTTTT
NM_000055.3:c.1518-108_1518-107insTTTTTTAAATTTTTTTTTTT	NP_000046.1:n.1518-108_1518-107insTTTTTTAAATTTTTTTTTTT
NR_137635.1:n.160-108_160-107insTTTTTTAAATTTTTTTTTTT
NR_137636.1:n.1685-108_1685-107insTTTTTTAAATTTTTTTTTTT
NM_000055.4:c.1518-108_1518-107insTTTTTTAAATTTTTTTTTTT MANE Select	NP_000046.1:n.1518-108_1518-107insTTTTTTAAATTTTTTTTTTT
NR_137635.2:n.111-108_111-107insTTTTTTAAATTTTTTTTTTT
NR_137636.2:n.1636-108_1636-107insTTTTTTAAATTTTTTTTTTT