Canonical Allele Identifier: CA2759252885

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830993_165830994insCACACCCAAC , CM000665.2:g.165830993_165830994insCACACCCAAC	GRCh38
NC_000003.11:g.165548781_165548782insCACACCCAAC , CM000665.1:g.165548781_165548782insCACACCCAAC	GRCh37
NC_000003.10:g.167031475_167031476insCACACCCAAC	NCBI36
NG_009031.1:g.11472_11473insGTTGGGTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.40_41insGTTGGGTGTG MANE Select	ENSP00000264381.3:p.Phe14CysfsTer19
ENST00000264381.7:c.40_41insGTTGGGTGTG	ENSP00000264381.3:p.Phe14CysfsTer19
ENST00000479451.5:c.107+6320_107+6321insGTTGGGTGTG	ENSP00000418325.1:n.107+6320_107+6321insGTTGGGTGTG
ENST00000482958.1:c.40_41insGTTGGGTGTG	ENSP00000419804.1:p.Phe14CysfsTer19
ENST00000488954.1:c.107+6320_107+6321insGTTGGGTGTG	ENSP00000418504.1:n.107+6320_107+6321insGTTGGGTGTG
ENST00000497011.5:c.40_41insGTTGGGTGTG	ENSP00000419505.1:p.Phe14CysfsTer19
NM_000055.2:c.40_41insGTTGGGTGTG	NP_000046.1:p.Phe14CysfsTer19
XM_005247685.1:c.163_164insGTTGGGTGTG	XP_005247742.1:p.Phe55CysfsTer19
NM_000055.3:c.40_41insGTTGGGTGTG	NP_000046.1:p.Phe14CysfsTer19
NR_137635.1:n.159+6320_159+6321insGTTGGGTGTG
NR_137636.1:n.207_208insGTTGGGTGTG
NM_000055.4:c.40_41insGTTGGGTGTG MANE Select	NP_000046.1:p.Phe14CysfsTer19
NR_137635.2:n.110+6320_110+6321insGTTGGGTGTG
NR_137636.2:n.158_159insGTTGGGTGTG