Canonical Allele Identifier: CA1417760191
Gene: BCHE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165830240_165830241delinsTA , CM000665.2:g.165830240_165830241delinsTA GRCh38
NC_000003.11:g.165548028_165548029delinsTA , CM000665.1:g.165548028_165548029delinsTA GRCh37
NC_000003.10:g.167030722_167030723delinsTA NCBI36
NG_009031.1:g.12225_12226delinsTA

Transcript Alleles

HGVS Amino-acid change
ENST00000264381.8:c.793_794delinsTA MANE Select ENSP00000264381.3:p.Tyr265=
ENST00000264381.7:c.793_794delinsTA ENSP00000264381.3:p.Tyr265=
ENST00000479451.5:c.107+7073_107+7074delinsTA ENSP00000418325.1:n.107+7073_107+7074deli...
ENST00000482958.1:c.793_794delinsTA ENSP00000419804.1:p.Tyr265=
ENST00000488954.1:c.107+7073_107+7074delinsTA ENSP00000418504.1:n.107+7073_107+7074deli...
ENST00000497011.5:c.793_794delinsTA ENSP00000419505.1:p.Tyr265=
NM_000055.2:c.793_794delinsTA NP_000046.1:p.Tyr265=
XM_005247685.1:c.916_917delinsTA XP_005247742.1:p.Tyr306=
NM_000055.3:c.793_794delinsTA NP_000046.1:p.Tyr265=
NR_137635.1:n.159+7073_159+7074delinsTA
NR_137636.1:n.960_961delinsTA
NM_000055.4:c.793_794delinsTA MANE Select NP_000046.1:p.Tyr265=
NR_137635.2:n.110+7073_110+7074delinsTA
NR_137636.2:n.911_912delinsTA