Canonical Allele Identifier: CA1417759930
Gene: BCHE HGNC NCBI

Linked Data

dbSNP Id: rs1714894343

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165830044del , CM000665.2:g.165830044del GRCh38
NC_000003.11:g.165547832del , CM000665.1:g.165547832del GRCh37
NC_000003.10:g.167030526del NCBI36
NG_009031.1:g.12422del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264381.8:c.990del MANE Select ENSP00000264381.3:p.Met330IlefsTer29
ENST00000264381.7:c.990del ENSP00000264381.3:p.Met330IlefsTer29
ENST00000479451.5:c.107+7270del ENSP00000418325.1:n.107+7270del
ENST00000482958.1:c.990del ENSP00000419804.1:p.Met330IlefsTer29
ENST00000488954.1:c.107+7270del ENSP00000418504.1:n.107+7270del
ENST00000497011.5:c.990del ENSP00000419505.1:p.Met330IlefsTer29
NM_000055.2:c.990del NP_000046.1:p.Met330IlefsTer29
XM_005247685.1:c.1113del XP_005247742.1:p.Met371IlefsTer29
NM_000055.3:c.990del NP_000046.1:p.Met330IlefsTer29
NR_137635.1:n.159+7270del
NR_137636.1:n.1157del
NM_000055.4:c.990del MANE Select NP_000046.1:p.Met330IlefsTer29
NR_137635.2:n.110+7270del
NR_137636.2:n.1108del