Canonical Allele Identifier: CA2759252879

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165829998_165829999insCCAAACACACCCAACAC , CM000665.2:g.165829998_165829999insCCAAACACACCCAACAC	GRCh38
NC_000003.11:g.165547786_165547787insCCAAACACACCCAACAC , CM000665.1:g.165547786_165547787insCCAAACACACCCAACAC	GRCh37
NC_000003.10:g.167030480_167030481insCCAAACACACCCAACAC	NCBI36
NG_009031.1:g.12467_12468insGTGTTGGGTGTGTTTGG

Transcript Alleles

HGVS	Amino-acid Change
NM_000055.4:c.1035_1036insGTGTTGGGTGTGTTTGG MANE Select	NP_000046.1:p.Leu346ValfsTer19
ENST00000264381.8:c.1035_1036insGTGTTGGGTGTGTTTGG MANE Select	ENSP00000264381.3:p.Leu346ValfsTer19
NM_000055.2:c.1035_1036insGTGTTGGGTGTGTTTGG	NP_000046.1:p.Leu346ValfsTer19
NM_000055.3:c.1035_1036insGTGTTGGGTGTGTTTGG	NP_000046.1:p.Leu346ValfsTer19
NR_137635.1:n.159+7315_159+7316insGTGTTGGGTGTGTTTGG
NR_137635.2:n.110+7315_110+7316insGTGTTGGGTGTGTTTGG
NR_137636.1:n.1202_1203insGTGTTGGGTGTGTTTGG
NR_137636.2:n.1153_1154insGTGTTGGGTGTGTTTGG
ENST00000264381.7:c.1035_1036insGTGTTGGGTGTGTTTGG	ENSP00000264381.3:p.Leu346ValfsTer19
ENST00000479451.5:c.107+7315_107+7316insGTGTTGGGTGTGTTTGG	ENSP00000418325.1:n.107+7315_107+7316insGTGTTGGGTGTGTTTGG
ENST00000482958.1:c.1035_1036insGTGTTGGGTGTGTTTGG	ENSP00000419804.1:p.Leu346ValfsTer19
ENST00000488954.1:c.107+7315_107+7316insGTGTTGGGTGTGTTTGG	ENSP00000418504.1:n.107+7315_107+7316insGTGTTGGGTGTGTTTGG
ENST00000497011.5:c.1035_1036insGTGTTGGGTGTGTTTGG	ENSP00000419505.1:p.Leu346ValfsTer19
XM_005247685.1:c.1158_1159insGTGTTGGGTGTGTTTGG	XP_005247742.1:p.Leu387ValfsTer19