Canonical Allele Identifier: CA2840292957

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830820dup , CM000665.2:g.165830820dup	GRCh38
NC_000003.11:g.165548608dup , CM000665.1:g.165548608dup	GRCh37
NC_000003.10:g.167031302dup	NCBI36
NG_009031.1:g.11650dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.218dup MANE Select	ENSP00000264381.3:p.Pro74AlafsTer9
ENST00000264381.7:c.218dup	ENSP00000264381.3:p.Pro74AlafsTer9
ENST00000479451.5:c.107+6498dup	ENSP00000418325.1:n.107+6498dup
ENST00000482958.1:c.218dup	ENSP00000419804.1:p.Pro74AlafsTer9
ENST00000488954.1:c.107+6498dup	ENSP00000418504.1:n.107+6498dup
ENST00000497011.5:c.218dup	ENSP00000419505.1:p.Pro74AlafsTer9
NM_000055.2:c.218dup	NP_000046.1:p.Pro74AlafsTer9
XM_005247685.1:c.341dup	XP_005247742.1:p.Pro115AlafsTer9
NM_000055.3:c.218dup	NP_000046.1:p.Pro74AlafsTer9
NR_137635.1:n.159+6498dup
NR_137636.1:n.385dup
NM_000055.4:c.218dup MANE Select	NP_000046.1:p.Pro74AlafsTer9
NR_137635.2:n.110+6498dup
NR_137636.2:n.336dup