Canonical Allele Identifier: CA2668431123

Gene: BCHE

Linked Data

• gnomAD v4: 3-165786090-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165786096del , CM000665.2:g.165786096del	GRCh38
NC_000003.11:g.165503884del , CM000665.1:g.165503884del	GRCh37
NC_000003.10:g.166986578del	NCBI36
NG_009031.1:g.56375del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1684+54del MANE Select	ENSP00000264381.3:n.1684+54del
ENST00000264381.7:c.1684+54del	ENSP00000264381.3:n.1684+54del
ENST00000479451.5:c.274+54del	ENSP00000418325.1:n.274+54del
ENST00000482958.1:c.*190+54del	ENSP00000419804.1:n.*190+54del
ENST00000488954.1:c.274+54del	ENSP00000418504.1:n.274+54del
ENST00000497011.5:c.1684+54del	ENSP00000419505.1:n.1684+54del
NM_000055.2:c.1684+54del	NP_000046.1:n.1684+54del
XM_005247685.1:c.1807+54del	XP_005247742.1:n.1807+54del
NM_000055.3:c.1684+54del	NP_000046.1:n.1684+54del
NR_137635.1:n.326+54del
NR_137636.1:n.1851+54del
NM_000055.4:c.1684+54del MANE Select	NP_000046.1:n.1684+54del
NR_137635.2:n.277+54del
NR_137636.2:n.1802+54del