Canonical Allele Identifier: CA902030089

Gene: BCHE

Linked Data

• dbSNP Id: rs1320279701
• gnomAD v3: 3-165831046-AAGAG-A
• gnomAD v4: 3-165831046-AAGAG-A
• MyVariant Identifiers: chr3:g.165548835_165548838del (hg19) ; chr3:g.165831047_165831050del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165831049_165831052del , CM000665.2:g.165831049_165831052del	GRCh38
NC_000003.11:g.165548837_165548840del , CM000665.1:g.165548837_165548840del	GRCh37
NC_000003.10:g.167031531_167031534del	NCBI36
NG_009031.1:g.11416_11419del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.-8-9_-8-6del MANE Select	ENSP00000264381.3:n.-8-9_-8-6del
ENST00000264381.7:c.-8-9_-8-6del	ENSP00000264381.3:n.-8-9_-8-6del
ENST00000479451.5:c.107+6264_107+6267del	ENSP00000418325.1:n.107+6264_107+6267del
ENST00000482958.1:c.-8-9_-8-6del	ENSP00000419804.1:n.-8-9_-8-6del
ENST00000488954.1:c.107+6264_107+6267del	ENSP00000418504.1:n.107+6264_107+6267del
ENST00000497011.5:c.-8-9_-8-6del	ENSP00000419505.1:n.-8-9_-8-6del
NM_000055.2:c.-8-9_-8-6del	NP_000046.1:n.-8-9_-8-6del
XM_005247685.1:c.116-9_116-6del	XP_005247742.1:n.116-9_116-6del
NM_000055.3:c.-8-9_-8-6del	NP_000046.1:n.-8-9_-8-6del
NR_137635.1:n.159+6264_159+6267del
NR_137636.1:n.160-9_160-6del
NM_000055.4:c.-8-9_-8-6del MANE Select	NP_000046.1:n.-8-9_-8-6del
NR_137635.2:n.110+6264_110+6267del
NR_137636.2:n.111-9_111-6del