Canonical Allele Identifier: CA3013301629

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165829553del , CM000665.2:g.165829553del	GRCh38
NC_000003.11:g.165547341del , CM000665.1:g.165547341del	GRCh37
NC_000003.10:g.167030035del	NCBI36
NG_009031.1:g.12914del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1482del MANE Select	ENSP00000264381.3:p.Ile495Ter
ENST00000264381.7:c.1482del	ENSP00000264381.3:p.Ile495Ter
ENST00000479451.5:c.107+7762del	ENSP00000418325.1:n.107+7762del
ENST00000482958.1:c.1482del	ENSP00000419804.1:p.Ile495Ter
ENST00000488954.1:c.107+7762del	ENSP00000418504.1:n.107+7762del
ENST00000497011.5:c.1482del	ENSP00000419505.1:p.Ile495Ter
NM_000055.2:c.1482del	NP_000046.1:p.Ile495Ter
XM_005247685.1:c.1605del	XP_005247742.1:p.Ile536Ter
NM_000055.3:c.1482del	NP_000046.1:p.Ile495Ter
NR_137635.1:n.159+7762del
NR_137636.1:n.1649del
NM_000055.4:c.1482del MANE Select	NP_000046.1:p.Ile495Ter
NR_137635.2:n.110+7762del
NR_137636.2:n.1600del