Canonical Allele Identifier: CA917057091

Gene: BCHE

Linked Data

• dbSNP Id: rs1560023569
• gnomAD v4: 3-165830598-A-AACC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830606_165830608dup , CM000665.2:g.165830606_165830608dup	GRCh38
NC_000003.11:g.165548394_165548396dup , CM000665.1:g.165548394_165548396dup	GRCh37
NC_000003.10:g.167031088_167031090dup	NCBI36
NG_009031.1:g.11865_11867dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.433_435dup MANE Select	ENSP00000264381.3:p.Gly145_Phe146insGly
ENST00000264381.7:c.433_435dup	ENSP00000264381.3:p.Gly145_Phe146insGly
ENST00000479451.5:c.107+6713_107+6715dup	ENSP00000418325.1:n.107+6713_107+6715dup
ENST00000482958.1:c.433_435dup	ENSP00000419804.1:p.Gly145_Phe146insGly
ENST00000488954.1:c.107+6713_107+6715dup	ENSP00000418504.1:n.107+6713_107+6715dup
ENST00000497011.5:c.433_435dup	ENSP00000419505.1:p.Gly145_Phe146insGly
NM_000055.2:c.433_435dup	NP_000046.1:p.Gly145_Phe146insGly
XM_005247685.1:c.556_558dup	XP_005247742.1:p.Gly186_Phe187insGly
NM_000055.3:c.433_435dup	NP_000046.1:p.Gly145_Phe146insGly
NR_137635.1:n.159+6713_159+6715dup
NR_137636.1:n.600_602dup
NM_000055.4:c.433_435dup MANE Select	NP_000046.1:p.Gly145_Phe146insGly
NR_137635.2:n.110+6713_110+6715dup
NR_137636.2:n.551_553dup