Canonical Allele Identifier: CA1417759175

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165829579_165829580delinsTG , CM000665.2:g.165829579_165829580delinsTG	GRCh38
NC_000003.11:g.165547367_165547368delinsTG , CM000665.1:g.165547367_165547368delinsTG	GRCh37
NC_000003.10:g.167030061_167030062delinsTG	NCBI36
NG_009031.1:g.12886_12887delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1454_1455delinsCA MANE Select	ENSP00000264381.3:p.Thr485=
ENST00000264381.7:c.1454_1455delinsCA	ENSP00000264381.3:p.Thr485=
ENST00000479451.5:c.107+7734_107+7735delinsCA	ENSP00000418325.1:n.107+7734_107+7735delinsCA
ENST00000482958.1:c.1454_1455delinsCA	ENSP00000419804.1:p.Thr485=
ENST00000488954.1:c.107+7734_107+7735delinsCA	ENSP00000418504.1:n.107+7734_107+7735delinsCA
ENST00000497011.5:c.1454_1455delinsCA	ENSP00000419505.1:p.Thr485=
NM_000055.2:c.1454_1455delinsCA	NP_000046.1:p.Thr485=
XM_005247685.1:c.1577_1578delinsCA	XP_005247742.1:p.Thr526=
NM_000055.3:c.1454_1455delinsCA	NP_000046.1:p.Thr485=
NR_137635.1:n.159+7734_159+7735delinsCA
NR_137636.1:n.1621_1622delinsCA
NM_000055.4:c.1454_1455delinsCA MANE Select	NP_000046.1:p.Thr485=
NR_137635.2:n.110+7734_110+7735delinsCA
NR_137636.2:n.1572_1573delinsCA