Canonical Allele Identifier: CA1417760984

Gene: BCHE

Linked Data

• dbSNP Id: rs1714960344
• gnomAD v4: 3-165831058-TATA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165831061_165831063del , CM000665.2:g.165831061_165831063del	GRCh38
NC_000003.11:g.165548849_165548851del , CM000665.1:g.165548849_165548851del	GRCh37
NC_000003.10:g.167031543_167031545del	NCBI36
NG_009031.1:g.11405_11407del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.-8-20_-8-18del MANE Select	ENSP00000264381.3:n.-8-20_-8-18del
ENST00000264381.7:c.-8-20_-8-18del	ENSP00000264381.3:n.-8-20_-8-18del
ENST00000479451.5:c.107+6253_107+6255del	ENSP00000418325.1:n.107+6253_107+6255del
ENST00000482958.1:c.-8-20_-8-18del	ENSP00000419804.1:n.-8-20_-8-18del
ENST00000488954.1:c.107+6253_107+6255del	ENSP00000418504.1:n.107+6253_107+6255del
ENST00000497011.5:c.-8-20_-8-18del	ENSP00000419505.1:n.-8-20_-8-18del
NM_000055.2:c.-8-20_-8-18del	NP_000046.1:n.-8-20_-8-18del
XM_005247685.1:c.116-20_116-18del	XP_005247742.1:n.116-20_116-18del
NM_000055.3:c.-8-20_-8-18del	NP_000046.1:n.-8-20_-8-18del
NR_137635.1:n.159+6253_159+6255del
NR_137636.1:n.160-20_160-18del
NM_000055.4:c.-8-20_-8-18del MANE Select	NP_000046.1:n.-8-20_-8-18del
NR_137635.2:n.110+6253_110+6255del
NR_137636.2:n.111-20_111-18del