Canonical Allele Identifier: CA2668431170

Gene: BCHE

Linked Data

• gnomAD v4: 3-165786362-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165786367del , CM000665.2:g.165786367del	GRCh38
NC_000003.11:g.165504155del , CM000665.1:g.165504155del	GRCh37
NC_000003.10:g.166986849del	NCBI36
NG_009031.1:g.56103del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1518-52del MANE Select	ENSP00000264381.3:n.1518-52del
ENST00000264381.7:c.1518-52del	ENSP00000264381.3:n.1518-52del
ENST00000479451.5:c.108-52del	ENSP00000418325.1:n.108-52del
ENST00000482958.1:c.*24-52del	ENSP00000419804.1:n.*24-52del
ENST00000488954.1:c.108-52del	ENSP00000418504.1:n.108-52del
ENST00000497011.5:c.1518-52del	ENSP00000419505.1:n.1518-52del
NM_000055.2:c.1518-52del	NP_000046.1:n.1518-52del
XM_005247685.1:c.1641-52del	XP_005247742.1:n.1641-52del
NM_000055.3:c.1518-52del	NP_000046.1:n.1518-52del
NR_137635.1:n.160-52del
NR_137636.1:n.1685-52del
NM_000055.4:c.1518-52del MANE Select	NP_000046.1:n.1518-52del
NR_137635.2:n.111-52del
NR_137636.2:n.1636-52del