Canonical Allele Identifier: CA1417758854

Gene: BCHE

Linked Data

• dbSNP Id: rs1714854247

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165829300_165829301del , CM000665.2:g.165829300_165829301del	GRCh38
NC_000003.11:g.165547088_165547089del , CM000665.1:g.165547088_165547089del	GRCh37
NC_000003.10:g.167029782_167029783del	NCBI36
NG_009031.1:g.13167_13168del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1517+218_1517+219del MANE Select	ENSP00000264381.3:n.1517+218_1517+219del
ENST00000264381.7:c.1517+218_1517+219del	ENSP00000264381.3:n.1517+218_1517+219del
ENST00000479451.5:c.107+8015_107+8016del	ENSP00000418325.1:n.107+8015_107+8016del
ENST00000482958.1:c.1517+218_1517+219del	ENSP00000419804.1:n.1517+218_1517+219del
ENST00000488954.1:c.107+8015_107+8016del	ENSP00000418504.1:n.107+8015_107+8016del
ENST00000497011.5:c.1517+218_1517+219del	ENSP00000419505.1:n.1517+218_1517+219del
NM_000055.2:c.1517+218_1517+219del	NP_000046.1:n.1517+218_1517+219del
XM_005247685.1:c.1640+218_1640+219del	XP_005247742.1:n.1640+218_1640+219del
NM_000055.3:c.1517+218_1517+219del	NP_000046.1:n.1517+218_1517+219del
NR_137635.1:n.159+8015_159+8016del
NR_137636.1:n.1684+218_1684+219del
NM_000055.4:c.1517+218_1517+219del MANE Select	NP_000046.1:n.1517+218_1517+219del
NR_137635.2:n.110+8015_110+8016del
NR_137636.2:n.1635+218_1635+219del