Canonical Allele Identifier: CA2692360
Gene: BCHE HGNC NCBI

Linked Data

dbSNP Id: rs759679732

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165829868_165829871del , CM000665.2:g.165829868_165829871del GRCh38
NC_000003.11:g.165547656_165547659del , CM000665.1:g.165547656_165547659del GRCh37
NC_000003.10:g.167030350_167030353del NCBI36
NG_009031.1:g.12603_12606del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264381.8:c.1171_1174del MANE Select ENSP00000264381.3:p.Glu391LeufsTer14
ENST00000264381.7:c.1171_1174del ENSP00000264381.3:p.Glu391LeufsTer14
ENST00000479451.5:c.107+7451_107+7454del ENSP00000418325.1:n.107+7451_107+7454del
ENST00000482958.1:c.1171_1174del ENSP00000419804.1:p.Glu391LeufsTer14
ENST00000488954.1:c.107+7451_107+7454del ENSP00000418504.1:n.107+7451_107+7454del
ENST00000497011.5:c.1171_1174del ENSP00000419505.1:p.Glu391LeufsTer14
NM_000055.2:c.1171_1174del NP_000046.1:p.Glu391LeufsTer14
XM_005247685.1:c.1294_1297del XP_005247742.1:p.Glu432LeufsTer14
NM_000055.3:c.1171_1174del NP_000046.1:p.Glu391LeufsTer14
NR_137635.1:n.159+7451_159+7454del
NR_137636.1:n.1338_1341del
NM_000055.4:c.1171_1174del MANE Select NP_000046.1:p.Glu391LeufsTer14
NR_137635.2:n.110+7451_110+7454del
NR_137636.2:n.1289_1292del