Canonical Allele Identifier: CA3253937059

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830099_165830100dup , CM000665.2:g.165830099_165830100dup	GRCh38
NC_000003.11:g.165547887_165547888dup , CM000665.1:g.165547887_165547888dup	GRCh37
NC_000003.10:g.167030581_167030582dup	NCBI36
NG_009031.1:g.12366_12367dup

Transcript Alleles

HGVS	Amino-acid Change
NM_000055.4:c.934_935dup MANE Select	NP_000046.1:p.Pro313LeufsTer5
ENST00000264381.8:c.934_935dup MANE Select	ENSP00000264381.3:p.Pro313LeufsTer5
NM_000055.2:c.934_935dup	NP_000046.1:p.Pro313LeufsTer5
NM_000055.3:c.934_935dup	NP_000046.1:p.Pro313LeufsTer5
NR_137635.1:n.159+7214_159+7215dup
NR_137635.2:n.110+7214_110+7215dup
NR_137636.1:n.1101_1102dup
NR_137636.2:n.1052_1053dup
ENST00000264381.7:c.934_935dup	ENSP00000264381.3:p.Pro313LeufsTer5
ENST00000479451.5:c.107+7214_107+7215dup	ENSP00000418325.1:n.107+7214_107+7215dup
ENST00000482958.1:c.934_935dup	ENSP00000419804.1:p.Pro313LeufsTer5
ENST00000488954.1:c.107+7214_107+7215dup	ENSP00000418504.1:n.107+7214_107+7215dup
ENST00000497011.5:c.934_935dup	ENSP00000419505.1:p.Pro313LeufsTer5
XM_005247685.1:c.1057_1058dup	XP_005247742.1:p.Pro354LeufsTer5