Canonical Allele Identifier: CA2668432409

Gene: BCHE

Linked Data

• gnomAD v4: 3-165830571-CATGTAAAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830575_165830582del , CM000665.2:g.165830575_165830582del	GRCh38
NC_000003.11:g.165548363_165548370del , CM000665.1:g.165548363_165548370del	GRCh37
NC_000003.10:g.167031057_167031064del	NCBI36
NG_009031.1:g.11887_11894del

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.455_462del MANE Select	ENSP00000264381.3:p.Ser152CysfsTer3
ENST00000264381.7:c.455_462del	ENSP00000264381.3:p.Ser152CysfsTer3
ENST00000479451.5:c.107+6735_107+6742del	ENSP00000418325.1:n.107+6735_107+6742del
ENST00000482958.1:c.455_462del	ENSP00000419804.1:p.Ser152CysfsTer3
ENST00000488954.1:c.107+6735_107+6742del	ENSP00000418504.1:n.107+6735_107+6742del
ENST00000497011.5:c.455_462del	ENSP00000419505.1:p.Ser152CysfsTer3
NM_000055.2:c.455_462del	NP_000046.1:p.Ser152CysfsTer3
XM_005247685.1:c.578_585del	XP_005247742.1:p.Ser193CysfsTer3
NM_000055.3:c.455_462del	NP_000046.1:p.Ser152CysfsTer3
NR_137635.1:n.159+6735_159+6742del
NR_137636.1:n.622_629del
NM_000055.4:c.455_462del MANE Select	NP_000046.1:p.Ser152CysfsTer3
NR_137635.2:n.110+6735_110+6742del
NR_137636.2:n.573_580del