Canonical Allele Identifier: CA1055963110

Gene: BCHE

Linked Data

• dbSNP Id: rs1714903622
• gnomAD v3: 3-165830155-TCTAAGACA-T
• gnomAD v4: 3-165830155-TCTAAGACA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830158_165830165del , CM000665.2:g.165830158_165830165del	GRCh38
NC_000003.11:g.165547946_165547953del , CM000665.1:g.165547946_165547953del	GRCh37
NC_000003.10:g.167030640_167030647del	NCBI36
NG_009031.1:g.12303_12310del

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.871_878del MANE Select	ENSP00000264381.3:p.Cys291LysfsTer2
ENST00000264381.7:c.871_878del	ENSP00000264381.3:p.Cys291LysfsTer2
ENST00000479451.5:c.107+7151_107+7158del	ENSP00000418325.1:n.107+7151_107+7158del
ENST00000482958.1:c.871_878del	ENSP00000419804.1:p.Cys291LysfsTer2
ENST00000488954.1:c.107+7151_107+7158del	ENSP00000418504.1:n.107+7151_107+7158del
ENST00000497011.5:c.871_878del	ENSP00000419505.1:p.Cys291LysfsTer2
NM_000055.2:c.871_878del	NP_000046.1:p.Cys291LysfsTer2
XM_005247685.1:c.994_1001del	XP_005247742.1:p.Cys332LysfsTer2
NM_000055.3:c.871_878del	NP_000046.1:p.Cys291LysfsTer2
NR_137635.1:n.159+7151_159+7158del
NR_137636.1:n.1038_1045del
NM_000055.4:c.871_878del MANE Select	NP_000046.1:p.Cys291LysfsTer2
NR_137635.2:n.110+7151_110+7158del
NR_137636.2:n.989_996del