Canonical Allele Identifier: CA547857061

Gene: BCHE

Linked Data

• dbSNP Id: rs1295814298
• gnomAD v2: 3-165547562-AAC-A
• gnomAD v4: 3-165829774-AAC-A
• MyVariant Identifiers: chr3:g.165547563_165547564del (hg19) ; chr3:g.165829775_165829776del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165829776_165829777del , CM000665.2:g.165829776_165829777del	GRCh38
NC_000003.11:g.165547564_165547565del , CM000665.1:g.165547564_165547565del	GRCh37
NC_000003.10:g.167030258_167030259del	NCBI36
NG_009031.1:g.12690_12691del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1258_1259del MANE Select	ENSP00000264381.3:p.Val420CysfsTer5
ENST00000264381.7:c.1258_1259del	ENSP00000264381.3:p.Val420CysfsTer5
ENST00000479451.5:c.107+7538_107+7539del	ENSP00000418325.1:n.107+7538_107+7539del
ENST00000482958.1:c.1258_1259del	ENSP00000419804.1:p.Val420CysfsTer5
ENST00000488954.1:c.107+7538_107+7539del	ENSP00000418504.1:n.107+7538_107+7539del
ENST00000497011.5:c.1258_1259del	ENSP00000419505.1:p.Val420CysfsTer5
NM_000055.2:c.1258_1259del	NP_000046.1:p.Val420CysfsTer5
XM_005247685.1:c.1381_1382del	XP_005247742.1:p.Val461CysfsTer5
NM_000055.3:c.1258_1259del	NP_000046.1:p.Val420CysfsTer5
NR_137635.1:n.159+7538_159+7539del
NR_137636.1:n.1425_1426del
NM_000055.4:c.1258_1259del MANE Select	NP_000046.1:p.Val420CysfsTer5
NR_137635.2:n.110+7538_110+7539del
NR_137636.2:n.1376_1377del