Canonical Allele Identifier: CA16040926
Gene: BCHE HGNC NCBI

Linked Data

ClinVar Variation Id: 370809
ClinVar RCV Id: RCV000409316
dbSNP Id: rs1057516784
MyVariant Identifiers: chr3:g.165548615_165548616del (hg19) chr3:g.165830827_165830828del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165830827_165830828del , CM000665.2:g.165830827_165830828del GRCh38
NC_000003.11:g.165548615_165548616del , CM000665.1:g.165548615_165548616del GRCh37
NC_000003.10:g.167031309_167031310del NCBI36
NG_009031.1:g.11638_11639del

Transcript Alleles

HGVS Amino-acid change
ENST00000264381.8:c.206_207del MANE Select ENSP00000264381.3:p.Leu69ProfsTer13
ENST00000264381.7:c.206_207del ENSP00000264381.3:p.Leu69ProfsTer13
ENST00000479451.5:c.107+6486_107+6487del ENSP00000418325.1:n.107+6486_107+6487del
ENST00000482958.1:c.206_207del ENSP00000419804.1:p.Leu69ProfsTer13
ENST00000488954.1:c.107+6486_107+6487del ENSP00000418504.1:n.107+6486_107+6487del
ENST00000497011.5:c.206_207del ENSP00000419505.1:p.Leu69ProfsTer13
NM_000055.2:c.206_207del NP_000046.1:p.Leu69ProfsTer13
XM_005247685.1:c.329_330del XP_005247742.1:p.Leu110ProfsTer13
NM_000055.3:c.206_207del NP_000046.1:p.Leu69ProfsTer13
NR_137635.1:n.159+6486_159+6487del
NR_137636.1:n.373_374del
NM_000055.4:c.206_207del MANE Select NP_000046.1:p.Leu69ProfsTer13
NR_137635.2:n.110+6486_110+6487del
NR_137636.2:n.324_325del
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