Canonical Allele Identifier: CA2668432414

Gene: BCHE

Linked Data

• gnomAD v4: 3-165830985-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830988del , CM000665.2:g.165830988del	GRCh38
NC_000003.11:g.165548776del , CM000665.1:g.165548776del	GRCh37
NC_000003.10:g.167031470del	NCBI36
NG_009031.1:g.11480del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.48del MANE Select	ENSP00000264381.3:p.Leu17PhefsTer17
ENST00000264381.7:c.48del	ENSP00000264381.3:p.Leu17PhefsTer17
ENST00000479451.5:c.107+6328del	ENSP00000418325.1:n.107+6328del
ENST00000482958.1:c.48del	ENSP00000419804.1:p.Leu17PhefsTer17
ENST00000488954.1:c.107+6328del	ENSP00000418504.1:n.107+6328del
ENST00000497011.5:c.48del	ENSP00000419505.1:p.Leu17PhefsTer17
NM_000055.2:c.48del	NP_000046.1:p.Leu17PhefsTer17
XM_005247685.1:c.171del	XP_005247742.1:p.Leu58PhefsTer17
NM_000055.3:c.48del	NP_000046.1:p.Leu17PhefsTer17
NR_137635.1:n.159+6328del
NR_137636.1:n.215del
NM_000055.4:c.48del MANE Select	NP_000046.1:p.Leu17PhefsTer17
NR_137635.2:n.110+6328del
NR_137636.2:n.166del