Canonical Allele Identifier: CA2542715244

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165829416_165829417insATGTTAGCCAAAG , CM000665.2:g.165829416_165829417insATGTTAGCCAAAG	GRCh38
NC_000003.11:g.165547204_165547205insATGTTAGCCAAAG , CM000665.1:g.165547204_165547205insATGTTAGCCAAAG	GRCh37
NC_000003.10:g.167029898_167029899insATGTTAGCCAAAG	NCBI36
NG_009031.1:g.13049_13050insCTTTGGCTAACAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1517+100_1517+101insCTTTGGCTAACAT MANE Select	ENSP00000264381.3:n.1517+100_1517+101insCTTTGGCTAACAT
ENST00000264381.7:c.1517+100_1517+101insCTTTGGCTAACAT	ENSP00000264381.3:n.1517+100_1517+101insCTTTGGCTAACAT
ENST00000479451.5:c.107+7897_107+7898insCTTTGGCTAACAT	ENSP00000418325.1:n.107+7897_107+7898insCTTTGGCTAACAT
ENST00000482958.1:c.1517+100_1517+101insCTTTGGCTAACAT	ENSP00000419804.1:n.1517+100_1517+101insCTTTGGCTAACAT
ENST00000488954.1:c.107+7897_107+7898insCTTTGGCTAACAT	ENSP00000418504.1:n.107+7897_107+7898insCTTTGGCTAACAT
ENST00000497011.5:c.1517+100_1517+101insCTTTGGCTAACAT	ENSP00000419505.1:n.1517+100_1517+101insCTTTGGCTAACAT
NM_000055.2:c.1517+100_1517+101insCTTTGGCTAACAT	NP_000046.1:n.1517+100_1517+101insCTTTGGCTAACAT
XM_005247685.1:c.1640+100_1640+101insCTTTGGCTAACAT	XP_005247742.1:n.1640+100_1640+101insCTTTGGCTAACAT
NM_000055.3:c.1517+100_1517+101insCTTTGGCTAACAT	NP_000046.1:n.1517+100_1517+101insCTTTGGCTAACAT
NR_137635.1:n.159+7897_159+7898insCTTTGGCTAACAT
NR_137636.1:n.1684+100_1684+101insCTTTGGCTAACAT
NM_000055.4:c.1517+100_1517+101insCTTTGGCTAACAT MANE Select	NP_000046.1:n.1517+100_1517+101insCTTTGGCTAACAT
NR_137635.2:n.110+7897_110+7898insCTTTGGCTAACAT
NR_137636.2:n.1635+100_1635+101insCTTTGGCTAACAT