Canonical Allele Identifier: CA1055941069

Gene: BCHE

Linked Data

• dbSNP Id: rs1712331068
• gnomAD v3: 3-165773387-GACCC-G
• gnomAD v4: 3-165773387-GACCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165773390_165773393del , CM000665.2:g.165773390_165773393del	GRCh38
NC_000003.11:g.165491178_165491181del , CM000665.1:g.165491178_165491181del	GRCh37
NC_000003.10:g.166973872_166973875del	NCBI36
NG_009031.1:g.69075_69078del

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.1800_1803del MANE Select	ENSP00000264381.3:p.Gly601SerfsTer3
ENST00000264381.7:c.1800_1803del	ENSP00000264381.3:p.Gly601SerfsTer3
ENST00000479451.5:c.390_393del	ENSP00000418325.1:p.Gly131SerfsTer3
ENST00000482958.1:c.*306_*309del	ENSP00000419804.1:n.*306_*309del
ENST00000497011.5:c.*190_*193del	ENSP00000419505.1:n.*190_*193del
NM_000055.2:c.1800_1803del	NP_000046.1:p.Gly601SerfsTer3
XM_005247685.1:c.1923_1926del	XP_005247742.1:p.Gly642SerfsTer3
NM_000055.3:c.1800_1803del	NP_000046.1:p.Gly601SerfsTer3
NR_137635.1:n.442_445del
NR_137636.1:n.2046_2049del
NM_000055.4:c.1800_1803del MANE Select	NP_000046.1:p.Gly601SerfsTer3
NR_137635.2:n.393_396del
NR_137636.2:n.1997_2000del