Canonical Allele Identifier: CA1417759428
Gene: BCHE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165829720_165829721delinsTG , CM000665.2:g.165829720_165829721delinsTG GRCh38
NC_000003.11:g.165547508_165547509delinsTG , CM000665.1:g.165547508_165547509delinsTG GRCh37
NC_000003.10:g.167030202_167030203delinsTG NCBI36
NG_009031.1:g.12745_12746delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000264381.8:c.1313_1314delinsCA MANE Select ENSP00000264381.3:p.Ser438=
ENST00000264381.7:c.1313_1314delinsCA ENSP00000264381.3:p.Ser438=
ENST00000479451.5:c.107+7593_107+7594delinsCA ENSP00000418325.1:n.107+7593_107+7594delinsCA
ENST00000482958.1:c.1313_1314delinsCA ENSP00000419804.1:p.Ser438=
ENST00000488954.1:c.107+7593_107+7594delinsCA ENSP00000418504.1:n.107+7593_107+7594delinsCA
ENST00000497011.5:c.1313_1314delinsCA ENSP00000419505.1:p.Ser438=
NM_000055.2:c.1313_1314delinsCA NP_000046.1:p.Ser438=
XM_005247685.1:c.1436_1437delinsCA XP_005247742.1:p.Ser479=
NM_000055.3:c.1313_1314delinsCA NP_000046.1:p.Ser438=
NR_137635.1:n.159+7593_159+7594delinsCA
NR_137636.1:n.1480_1481delinsCA
NM_000055.4:c.1313_1314delinsCA MANE Select NP_000046.1:p.Ser438=
NR_137635.2:n.110+7593_110+7594delinsCA
NR_137636.2:n.1431_1432delinsCA