Canonical Allele Identifier: CA2668431145

Gene: BCHE

Linked Data

• gnomAD v4: 3-165786219-C-CTTGTTGACTCTGTATTCAAGGTTAGATATTT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165786225_165786255dup , CM000665.2:g.165786225_165786255dup	GRCh38
NC_000003.11:g.165504013_165504043dup , CM000665.1:g.165504013_165504043dup	GRCh37
NC_000003.10:g.166986707_166986737dup	NCBI36
NG_009031.1:g.56216_56246dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1579_1609dup MANE Select	ENSP00000264381.3:p.Arg537LysfsTer39
ENST00000264381.7:c.1579_1609dup	ENSP00000264381.3:p.Arg537LysfsTer39
ENST00000479451.5:c.169_199dup	ENSP00000418325.1:p.Arg67LysfsTer39
ENST00000482958.1:c.*85_*115dup	ENSP00000419804.1:n.*85_*115dup
ENST00000488954.1:c.169_199dup	ENSP00000418504.1:p.Arg67LysfsTer?
ENST00000497011.5:c.1579_1609dup	ENSP00000419505.1:p.Arg537LysfsTer?
NM_000055.2:c.1579_1609dup	NP_000046.1:p.Arg537LysfsTer39
XM_005247685.1:c.1702_1732dup	XP_005247742.1:p.Arg578LysfsTer39
NM_000055.3:c.1579_1609dup	NP_000046.1:p.Arg537LysfsTer39
NR_137635.1:n.221_251dup
NR_137636.1:n.1746_1776dup
NM_000055.4:c.1579_1609dup MANE Select	NP_000046.1:p.Arg537LysfsTer39
NR_137635.2:n.172_202dup
NR_137636.2:n.1697_1727dup