Canonical Allele Identifier: CA1417767928

Gene: BCHE

Linked Data

• dbSNP Id: rs1713516017

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165798613_165798614del , CM000665.2:g.165798613_165798614del	GRCh38
NC_000003.11:g.165516401_165516402del , CM000665.1:g.165516401_165516402del	GRCh37
NC_000003.10:g.166999095_166999096del	NCBI36
NG_009031.1:g.43853_43854del

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.1518-12302_1518-12301del MANE Select	ENSP00000264381.3:n.1518-12302_1518-12301del
ENST00000264381.7:c.1518-12302_1518-12301del	ENSP00000264381.3:n.1518-12302_1518-12301del
ENST00000479451.5:c.108-12302_108-12301del	ENSP00000418325.1:n.108-12302_108-12301del
ENST00000482958.1:c.*24-12302_*24-12301del	ENSP00000419804.1:n.*24-12302_*24-12301del
ENST00000488954.1:c.108-12302_108-12301del	ENSP00000418504.1:n.108-12302_108-12301del
ENST00000497011.5:c.1518-12302_1518-12301del	ENSP00000419505.1:n.1518-12302_1518-12301del
NM_000055.2:c.1518-12302_1518-12301del	NP_000046.1:n.1518-12302_1518-12301del
XM_005247685.1:c.1641-12302_1641-12301del	XP_005247742.1:n.1641-12302_1641-12301del
NM_000055.3:c.1518-12302_1518-12301del	NP_000046.1:n.1518-12302_1518-12301del
NR_137635.1:n.160-12302_160-12301del
NR_137636.1:n.1685-12302_1685-12301del
NM_000055.4:c.1518-12302_1518-12301del MANE Select	NP_000046.1:n.1518-12302_1518-12301del
NR_137635.2:n.111-12302_111-12301del
NR_137636.2:n.1636-12302_1636-12301del