Canonical Allele Identifier: CA2692443

Gene: BCHE

Linked Data

• dbSNP Id: rs779403767
• ExAC: 3:165548099 G / GACACAGGAAGGGGAATATCACA
• gnomAD v2: 3-165548099-G-GACACAGGAAGGGGAATATCACA
• MyVariant Identifiers: chr3:g.165548099_165548100insACACAGGAAGGGGAATATCACA (hg19) ; chr3:g.165830311_165830312insACACAGGAAGGGGAATATCACA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830311_165830312insACACAGGAAGGGGAATATCACA , CM000665.2:g.165830311_165830312insACACAGGAAGGGGAATATCACA	GRCh38
NC_000003.11:g.165548099_165548100insACACAGGAAGGGGAATATCACA , CM000665.1:g.165548099_165548100insACACAGGAAGGGGAATATCACA	GRCh37
NC_000003.10:g.167030793_167030794insACACAGGAAGGGGAATATCACA	NCBI36
NG_009031.1:g.12154_12155insTGTGATATTCCCCTTCCTGTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.722_723insTGTGATATTCCCCTTCCTGTGT MANE Select	ENSP00000264381.3:p.His242ValfsTer22
ENST00000264381.7:c.722_723insTGTGATATTCCCCTTCCTGTGT	ENSP00000264381.3:p.His242ValfsTer22
ENST00000479451.5:c.107+7002_107+7003insTGTGATATTCCCCTTCCTGTGT	ENSP00000418325.1:n.107+7002_107+7003insTGTGATATTCCCCTTCCTGTG...
ENST00000482958.1:c.722_723insTGTGATATTCCCCTTCCTGTGT	ENSP00000419804.1:p.His242ValfsTer22
ENST00000488954.1:c.107+7002_107+7003insTGTGATATTCCCCTTCCTGTGT	ENSP00000418504.1:n.107+7002_107+7003insTGTGATATTCCCCTTCCTGTG...
ENST00000497011.5:c.722_723insTGTGATATTCCCCTTCCTGTGT	ENSP00000419505.1:p.His242ValfsTer22
NM_000055.2:c.722_723insTGTGATATTCCCCTTCCTGTGT	NP_000046.1:p.His242ValfsTer22
XM_005247685.1:c.845_846insTGTGATATTCCCCTTCCTGTGT	XP_005247742.1:p.His283ValfsTer22
NM_000055.3:c.722_723insTGTGATATTCCCCTTCCTGTGT	NP_000046.1:p.His242ValfsTer22
NR_137635.1:n.159+7002_159+7003insTGTGATATTCCCCTTCCTGTGT
NR_137636.1:n.889_890insTGTGATATTCCCCTTCCTGTGT
NM_000055.4:c.722_723insTGTGATATTCCCCTTCCTGTGT MANE Select	NP_000046.1:p.His242ValfsTer22
NR_137635.2:n.110+7002_110+7003insTGTGATATTCCCCTTCCTGTGT
NR_137636.2:n.840_841insTGTGATATTCCCCTTCCTGTGT