Canonical Allele Identifier: CA2543802099

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165773320_165773324del , CM000665.2:g.165773320_165773324del	GRCh38
NC_000003.11:g.165491108_165491112del , CM000665.1:g.165491108_165491112del	GRCh37
NC_000003.10:g.166973802_166973806del	NCBI36
NG_009031.1:g.69142_69146del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.*58_*62del MANE Select	ENSP00000264381.3:n.*58_*62del
ENST00000264381.7:c.*58_*62del	ENSP00000264381.3:n.*58_*62del
ENST00000479451.5:c.457_461del	ENSP00000418325.1:n.457_461del
ENST00000482958.1:c.*373_*377del	ENSP00000419804.1:n.*373_*377del
ENST00000497011.5:c.*257_*261del	ENSP00000419505.1:n.*257_*261del
NM_000055.2:c.*58_*62del	NP_000046.1:n.*58_*62del
XM_005247685.1:c.*58_*62del	XP_005247742.1:n.*58_*62del
NM_000055.3:c.*58_*62del	NP_000046.1:n.*58_*62del
NR_137635.1:n.509_513del
NR_137636.1:n.2113_2117del
NM_000055.4:c.*58_*62del MANE Select	NP_000046.1:n.*58_*62del
NR_137635.2:n.460_464del
NR_137636.2:n.2064_2068del