Canonical Allele Identifier: CA2527811538

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165773262_165773313del , CM000665.2:g.165773262_165773313del	GRCh38
NC_000003.11:g.165491050_165491101del , CM000665.1:g.165491050_165491101del	GRCh37
NC_000003.10:g.166973744_166973795del	NCBI36
NG_009031.1:g.69153_69204del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.*69_*120del MANE Select	ENSP00000264381.3:n.*69_*120del
ENST00000264381.7:c.*69_*120del	ENSP00000264381.3:n.*69_*120del
ENST00000479451.5:c.468_519del	ENSP00000418325.1:n.468_519del
ENST00000482958.1:c.*384_*435del	ENSP00000419804.1:n.*384_*435del
ENST00000497011.5:c.*268_*319del	ENSP00000419505.1:n.*268_*319del
NM_000055.2:c.*69_*120del	NP_000046.1:n.*69_*120del
XM_005247685.1:c.*69_*120del	XP_005247742.1:n.*69_*120del
NM_000055.3:c.*69_*120del	NP_000046.1:n.*69_*120del
NR_137635.1:n.520_571del
NR_137636.1:n.2124_2175del
NM_000055.4:c.*69_*120del MANE Select	NP_000046.1:n.*69_*120del
NR_137635.2:n.471_522del
NR_137636.2:n.2075_2126del