Canonical Allele Identifier: CA1417759356

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165829690_165829706delinsATAGTAGAAAAAGGCAT , CM000665.2:g.165829690_165829706delinsATAGTAGAAAAAGGCAT	GRCh38
NC_000003.11:g.165547478_165547494delinsATAGTAGAAAAAGGCAT , CM000665.1:g.165547478_165547494delinsATAGTAGAAAAAGGCAT	GRCh37
NC_000003.10:g.167030172_167030188delinsATAGTAGAAAAAGGCAT	NCBI36
NG_009031.1:g.12760_12776delinsATGCCTTTTTCTACTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1328_1344delinsATGCCTTTTTCTACTAT MANE Select	ENSP00000264381.3:p.Asn443=
ENST00000264381.7:c.1328_1344delinsATGCCTTTTTCTACTAT	ENSP00000264381.3:p.Asn443=
ENST00000479451.5:c.107+7608_107+7624delinsATGCCTTTTTCTACTAT	ENSP00000418325.1:n.107+7608_107+7624delinsATGCCTTTTTCTACTAT
ENST00000482958.1:c.1328_1344delinsATGCCTTTTTCTACTAT	ENSP00000419804.1:p.Asn443=
ENST00000488954.1:c.107+7608_107+7624delinsATGCCTTTTTCTACTAT	ENSP00000418504.1:n.107+7608_107+7624delinsATGCCTTTTTCTACTAT
ENST00000497011.5:c.1328_1344delinsATGCCTTTTTCTACTAT	ENSP00000419505.1:p.Asn443=
NM_000055.2:c.1328_1344delinsATGCCTTTTTCTACTAT	NP_000046.1:p.Asn443=
XM_005247685.1:c.1451_1467delinsATGCCTTTTTCTACTAT	XP_005247742.1:p.Asn484=
NM_000055.3:c.1328_1344delinsATGCCTTTTTCTACTAT	NP_000046.1:p.Asn443=
NR_137635.1:n.159+7608_159+7624delinsATGCCTTTTTCTACTAT
NR_137636.1:n.1495_1511delinsATGCCTTTTTCTACTAT
NM_000055.4:c.1328_1344delinsATGCCTTTTTCTACTAT MANE Select	NP_000046.1:p.Asn443=
NR_137635.2:n.110+7608_110+7624delinsATGCCTTTTTCTACTAT
NR_137636.2:n.1446_1462delinsATGCCTTTTTCTACTAT