Canonical Allele Identifier: CA1417760218
Gene: BCHE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165830249_165830250delinsGT , CM000665.2:g.165830249_165830250delinsGT GRCh38
NC_000003.11:g.165548037_165548038delinsGT , CM000665.1:g.165548037_165548038delinsGT GRCh37
NC_000003.10:g.167030731_167030732delinsGT NCBI36
NG_009031.1:g.12216_12217delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000264381.8:c.784_785delinsAC MANE Select ENSP00000264381.3:p.Thr262=
ENST00000264381.7:c.784_785delinsAC ENSP00000264381.3:p.Thr262=
ENST00000479451.5:c.107+7064_107+7065delinsAC ENSP00000418325.1:n.107+7064_107+7065delinsAC
ENST00000482958.1:c.784_785delinsAC ENSP00000419804.1:p.Thr262=
ENST00000488954.1:c.107+7064_107+7065delinsAC ENSP00000418504.1:n.107+7064_107+7065delinsAC
ENST00000497011.5:c.784_785delinsAC ENSP00000419505.1:p.Thr262=
NM_000055.2:c.784_785delinsAC NP_000046.1:p.Thr262=
XM_005247685.1:c.907_908delinsAC XP_005247742.1:p.Thr303=
NM_000055.3:c.784_785delinsAC NP_000046.1:p.Thr262=
NR_137635.1:n.159+7064_159+7065delinsAC
NR_137636.1:n.951_952delinsAC
NM_000055.4:c.784_785delinsAC MANE Select NP_000046.1:p.Thr262=
NR_137635.2:n.110+7064_110+7065delinsAC
NR_137636.2:n.902_903delinsAC