Canonical Allele Identifier: CA2692563

Gene: BCHE

Linked Data

• dbSNP Id: rs765565615
• ExAC: 3:165548680 CTG / C
• gnomAD v2: 3-165548680-CTG-C
• gnomAD v4: 3-165830892-CTG-C
• MyVariant Identifiers: chr3:g.165548681_165548682del (hg19) ; chr3:g.165830893_165830894del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830894_165830895del , CM000665.2:g.165830894_165830895del	GRCh38
NC_000003.11:g.165548682_165548683del , CM000665.1:g.165548682_165548683del	GRCh37
NC_000003.10:g.167031376_167031377del	NCBI36
NG_009031.1:g.11572_11573del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.140_141del MANE Select	ENSP00000264381.3:p.Thr47SerfsTer21
ENST00000264381.7:c.140_141del	ENSP00000264381.3:p.Thr47SerfsTer21
ENST00000479451.5:c.107+6420_107+6421del	ENSP00000418325.1:n.107+6420_107+6421del
ENST00000482958.1:c.140_141del	ENSP00000419804.1:p.Thr47SerfsTer21
ENST00000488954.1:c.107+6420_107+6421del	ENSP00000418504.1:n.107+6420_107+6421del
ENST00000497011.5:c.140_141del	ENSP00000419505.1:p.Thr47SerfsTer21
NM_000055.2:c.140_141del	NP_000046.1:p.Thr47SerfsTer21
XM_005247685.1:c.263_264del	XP_005247742.1:p.Thr88SerfsTer21
NM_000055.3:c.140_141del	NP_000046.1:p.Thr47SerfsTer21
NR_137635.1:n.159+6420_159+6421del
NR_137636.1:n.307_308del
NM_000055.4:c.140_141del MANE Select	NP_000046.1:p.Thr47SerfsTer21
NR_137635.2:n.110+6420_110+6421del
NR_137636.2:n.258_259del