Canonical Allele Identifier: CA1417731835

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165773328_165773346delinsTATTTTTGCCTTGATCTAA , CM000665.2:g.165773328_165773346delinsTATTTTTGCCTTGATCTAA	GRCh38
NC_000003.11:g.165491116_165491134delinsTATTTTTGCCTTGATCTAA , CM000665.1:g.165491116_165491134delinsTATTTTTGCCTTGATCTAA	GRCh37
NC_000003.10:g.166973810_166973828delinsTATTTTTGCCTTGATCTAA	NCBI36
NG_009031.1:g.69120_69138delinsTTAGATCAAGGCAAAAATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.*36_*54delinsTTAGATCAAGGCAAAAATA MANE Select	ENSP00000264381.3:n.*36_*54delinsTTAGATCAAGGCAAAAATA
ENST00000264381.7:c.*36_*54delinsTTAGATCAAGGCAAAAATA	ENSP00000264381.3:n.*36_*54delinsTTAGATCAAGGCAAAAATA
ENST00000479451.5:c.435_453delinsTTAGATCAAGGCAAAAATA	ENSP00000418325.1:n.435_453delinsTTAGATCAAGGCAAAAATA
ENST00000482958.1:c.*351_*369delinsTTAGATCAAGGCAAAAATA	ENSP00000419804.1:n.*351_*369delinsTTAGATCAAGGCAAAAATA
ENST00000497011.5:c.*235_*253delinsTTAGATCAAGGCAAAAATA	ENSP00000419505.1:n.*235_*253delinsTTAGATCAAGGCAAAAATA
NM_000055.2:c.*36_*54delinsTTAGATCAAGGCAAAAATA	NP_000046.1:n.*36_*54delinsTTAGATCAAGGCAAAAATA
XM_005247685.1:c.*36_*54delinsTTAGATCAAGGCAAAAATA	XP_005247742.1:n.*36_*54delinsTTAGATCAAGGCAAAAATA
NM_000055.3:c.*36_*54delinsTTAGATCAAGGCAAAAATA	NP_000046.1:n.*36_*54delinsTTAGATCAAGGCAAAAATA
NR_137635.1:n.487_505delinsTTAGATCAAGGCAAAAATA
NR_137636.1:n.2091_2109delinsTTAGATCAAGGCAAAAATA
NM_000055.4:c.*36_*54delinsTTAGATCAAGGCAAAAATA MANE Select	NP_000046.1:n.*36_*54delinsTTAGATCAAGGCAAAAATA
NR_137635.2:n.438_456delinsTTAGATCAAGGCAAAAATA
NR_137636.2:n.2042_2060delinsTTAGATCAAGGCAAAAATA