Canonical Allele Identifier: CA2668431659

Gene: BCHE

Linked Data

• gnomAD v4: 3-165829506-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165829507del , CM000665.2:g.165829507del	GRCh38
NC_000003.11:g.165547295del , CM000665.1:g.165547295del	GRCh37
NC_000003.10:g.167029989del	NCBI36
NG_009031.1:g.12959del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1517+10del MANE Select	ENSP00000264381.3:n.1517+10del
ENST00000264381.7:c.1517+10del	ENSP00000264381.3:n.1517+10del
ENST00000479451.5:c.107+7807del	ENSP00000418325.1:n.107+7807del
ENST00000482958.1:c.1517+10del	ENSP00000419804.1:n.1517+10del
ENST00000488954.1:c.107+7807del	ENSP00000418504.1:n.107+7807del
ENST00000497011.5:c.1517+10del	ENSP00000419505.1:n.1517+10del
NM_000055.2:c.1517+10del	NP_000046.1:n.1517+10del
XM_005247685.1:c.1640+10del	XP_005247742.1:n.1640+10del
NM_000055.3:c.1517+10del	NP_000046.1:n.1517+10del
NR_137635.1:n.159+7807del
NR_137636.1:n.1684+10del
NM_000055.4:c.1517+10del MANE Select	NP_000046.1:n.1517+10del
NR_137635.2:n.110+7807del
NR_137636.2:n.1635+10del