Canonical Allele Identifier: CA2573052106

Gene: BCHE

Linked Data

• ClinVar Variation Id: 1323974
• ClinVar RCV Id: RCV001780679
• dbSNP Id: rs2108235127

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830207_165830210dup , CM000665.2:g.165830207_165830210dup	GRCh38
NC_000003.11:g.165547995_165547998dup , CM000665.1:g.165547995_165547998dup	GRCh37
NC_000003.10:g.167030689_167030692dup	NCBI36
NG_009031.1:g.12256_12259dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.824_827dup MANE Select	ENSP00000264381.3:p.Lys276AsnfsTer2
ENST00000264381.7:c.824_827dup	ENSP00000264381.3:p.Lys276AsnfsTer2
ENST00000479451.5:c.107+7104_107+7107dup	ENSP00000418325.1:n.107+7104_107+7107dup
ENST00000482958.1:c.824_827dup	ENSP00000419804.1:p.Lys276AsnfsTer2
ENST00000488954.1:c.107+7104_107+7107dup	ENSP00000418504.1:n.107+7104_107+7107dup
ENST00000497011.5:c.824_827dup	ENSP00000419505.1:p.Lys276AsnfsTer2
NM_000055.2:c.824_827dup	NP_000046.1:p.Lys276AsnfsTer2
XM_005247685.1:c.947_950dup	XP_005247742.1:p.Lys317AsnfsTer2
NM_000055.3:c.824_827dup	NP_000046.1:p.Lys276AsnfsTer2
NR_137635.1:n.159+7104_159+7107dup
NR_137636.1:n.991_994dup
NM_000055.4:c.824_827dup MANE Select	NP_000046.1:p.Lys276AsnfsTer2
NR_137635.2:n.110+7104_110+7107dup
NR_137636.2:n.942_945dup