Canonical Allele Identifier: CA1417760040

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830141_165830142delinsTG , CM000665.2:g.165830141_165830142delinsTG	GRCh38
NC_000003.11:g.165547929_165547930delinsTG , CM000665.1:g.165547929_165547930delinsTG	GRCh37
NC_000003.10:g.167030623_167030624delinsTG	NCBI36
NG_009031.1:g.12324_12325delinsCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.892_893delinsCA MANE Select	ENSP00000264381.3:p.Gln298=
ENST00000264381.7:c.892_893delinsCA	ENSP00000264381.3:p.Gln298=
ENST00000479451.5:c.107+7172_107+7173delinsCA	ENSP00000418325.1:n.107+7172_107+7173deli...
ENST00000482958.1:c.892_893delinsCA	ENSP00000419804.1:p.Gln298=
ENST00000488954.1:c.107+7172_107+7173delinsCA	ENSP00000418504.1:n.107+7172_107+7173deli...
ENST00000497011.5:c.892_893delinsCA	ENSP00000419505.1:p.Gln298=
NM_000055.2:c.892_893delinsCA	NP_000046.1:p.Gln298=
XM_005247685.1:c.1015_1016delinsCA	XP_005247742.1:p.Gln339=
NM_000055.3:c.892_893delinsCA	NP_000046.1:p.Gln298=
NR_137635.1:n.159+7172_159+7173delinsCA
NR_137636.1:n.1059_1060delinsCA
NM_000055.4:c.892_893delinsCA MANE Select	NP_000046.1:p.Gln298=
NR_137635.2:n.110+7172_110+7173delinsCA
NR_137636.2:n.1010_1011delinsCA