Canonical Allele Identifier: CA2668431173

Gene: BCHE

Linked Data

• gnomAD v4: 3-165786368-GAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165786369_165786370del , CM000665.2:g.165786369_165786370del	GRCh38
NC_000003.11:g.165504157_165504158del , CM000665.1:g.165504157_165504158del	GRCh37
NC_000003.10:g.166986851_166986852del	NCBI36
NG_009031.1:g.56096_56097del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1518-59_1518-58del MANE Select	ENSP00000264381.3:n.1518-59_1518-58del
ENST00000264381.7:c.1518-59_1518-58del	ENSP00000264381.3:n.1518-59_1518-58del
ENST00000479451.5:c.108-59_108-58del	ENSP00000418325.1:n.108-59_108-58del
ENST00000482958.1:c.*24-59_*24-58del	ENSP00000419804.1:n.*24-59_*24-58del
ENST00000488954.1:c.108-59_108-58del	ENSP00000418504.1:n.108-59_108-58del
ENST00000497011.5:c.1518-59_1518-58del	ENSP00000419505.1:n.1518-59_1518-58del
NM_000055.2:c.1518-59_1518-58del	NP_000046.1:n.1518-59_1518-58del
XM_005247685.1:c.1641-59_1641-58del	XP_005247742.1:n.1641-59_1641-58del
NM_000055.3:c.1518-59_1518-58del	NP_000046.1:n.1518-59_1518-58del
NR_137635.1:n.160-59_160-58del
NR_137636.1:n.1685-59_1685-58del
NM_000055.4:c.1518-59_1518-58del MANE Select	NP_000046.1:n.1518-59_1518-58del
NR_137635.2:n.111-59_111-58del
NR_137636.2:n.1636-59_1636-58del