Canonical Allele Identifier: CA2537561873

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165773341_165773356del , CM000665.2:g.165773341_165773356del	GRCh38
NC_000003.11:g.165491129_165491144del , CM000665.1:g.165491129_165491144del	GRCh37
NC_000003.10:g.166973823_166973838del	NCBI36
NG_009031.1:g.69110_69125del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.*26_*41del MANE Select	ENSP00000264381.3:n.*26_*41del
ENST00000264381.7:c.*26_*41del	ENSP00000264381.3:n.*26_*41del
ENST00000479451.5:c.425_440del	ENSP00000418325.1:n.425_440del
ENST00000482958.1:c.*341_*356del	ENSP00000419804.1:n.*341_*356del
ENST00000497011.5:c.*225_*240del	ENSP00000419505.1:n.*225_*240del
NM_000055.2:c.*26_*41del	NP_000046.1:n.*26_*41del
XM_005247685.1:c.*26_*41del	XP_005247742.1:n.*26_*41del
NM_000055.3:c.*26_*41del	NP_000046.1:n.*26_*41del
NR_137635.1:n.477_492del
NR_137636.1:n.2081_2096del
NM_000055.4:c.*26_*41del MANE Select	NP_000046.1:n.*26_*41del
NR_137635.2:n.428_443del
NR_137636.2:n.2032_2047del