Canonical Allele Identifier: CA2692372

Gene: BCHE

Linked Data

• dbSNP Id: rs761080105
• ExAC: 3:165547719 TC / T
• gnomAD v2: 3-165547719-TC-T
• gnomAD v4: 3-165829931-TC-T
• MyVariant Identifiers: chr3:g.165547720del (hg19) ; chr3:g.165829932del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165829932del , CM000665.2:g.165829932del	GRCh38
NC_000003.11:g.165547720del , CM000665.1:g.165547720del	GRCh37
NC_000003.10:g.167030414del	NCBI36
NG_009031.1:g.12534del

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.1102del MANE Select	ENSP00000264381.3:p.Asp368IlefsTer6
ENST00000264381.7:c.1102del	ENSP00000264381.3:p.Asp368IlefsTer6
ENST00000479451.5:c.107+7382del	ENSP00000418325.1:n.107+7382del
ENST00000482958.1:c.1102del	ENSP00000419804.1:p.Asp368IlefsTer6
ENST00000488954.1:c.107+7382del	ENSP00000418504.1:n.107+7382del
ENST00000497011.5:c.1102del	ENSP00000419505.1:p.Asp368IlefsTer6
NM_000055.2:c.1102del	NP_000046.1:p.Asp368IlefsTer6
XM_005247685.1:c.1225del	XP_005247742.1:p.Asp409IlefsTer6
NM_000055.3:c.1102del	NP_000046.1:p.Asp368IlefsTer6
NR_137635.1:n.159+7382del
NR_137636.1:n.1269del
NM_000055.4:c.1102del MANE Select	NP_000046.1:p.Asp368IlefsTer6
NR_137635.2:n.110+7382del
NR_137636.2:n.1220del