Canonical Allele Identifier: CA2704535603
Gene: BCHE HGNC NCBI

Linked Data

dbSNP Id: rs2108203907

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165788080del , CM000665.2:g.165788080del GRCh38
NC_000003.11:g.165505868del , CM000665.1:g.165505868del GRCh37
NC_000003.10:g.166988562del NCBI36
NG_009031.1:g.54386del

Transcript Alleles

HGVS Amino-acid change
ENST00000264381.8:c.1518-1769del MANE Select ENSP00000264381.3:n.1518-1769del
ENST00000264381.7:c.1518-1769del ENSP00000264381.3:n.1518-1769del
ENST00000479451.5:c.108-1769del ENSP00000418325.1:n.108-1769del
ENST00000482958.1:c.*24-1769del ENSP00000419804.1:n.*24-1769del
ENST00000488954.1:c.108-1769del ENSP00000418504.1:n.108-1769del
ENST00000497011.5:c.1518-1769del ENSP00000419505.1:n.1518-1769del
NM_000055.2:c.1518-1769del NP_000046.1:n.1518-1769del
XM_005247685.1:c.1641-1769del XP_005247742.1:n.1641-1769del
NM_000055.3:c.1518-1769del NP_000046.1:n.1518-1769del
NR_137635.1:n.160-1769del
NR_137636.1:n.1685-1769del
NM_000055.4:c.1518-1769del MANE Select NP_000046.1:n.1518-1769del
NR_137635.2:n.111-1769del
NR_137636.2:n.1636-1769del