Canonical Allele Identifier: CA2692324
Gene: BCHE HGNC NCBI

Linked Data

dbSNP Id: rs763329644

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165829646_165829647insATAG , CM000665.2:g.165829646_165829647insATAG GRCh38
NC_000003.11:g.165547434_165547435insATAG , CM000665.1:g.165547434_165547435insATAG GRCh37
NC_000003.10:g.167030128_167030129insATAG NCBI36
NG_009031.1:g.12819_12820insCTAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000264381.8:c.1387_1388insCTAT MANE Select ENSP00000264381.3:p.Gly463AlafsTer8
ENST00000264381.7:c.1387_1388insCTAT ENSP00000264381.3:p.Gly463AlafsTer8
ENST00000479451.5:c.107+7667_107+7668insCTAT ENSP00000418325.1:n.107+7667_107+7668insCTAT
ENST00000482958.1:c.1387_1388insCTAT ENSP00000419804.1:p.Gly463AlafsTer8
ENST00000488954.1:c.107+7667_107+7668insCTAT ENSP00000418504.1:n.107+7667_107+7668insCTAT
ENST00000497011.5:c.1387_1388insCTAT ENSP00000419505.1:p.Gly463AlafsTer8
NM_000055.2:c.1387_1388insCTAT NP_000046.1:p.Gly463AlafsTer8
XM_005247685.1:c.1510_1511insCTAT XP_005247742.1:p.Gly504AlafsTer8
NM_000055.3:c.1387_1388insCTAT NP_000046.1:p.Gly463AlafsTer8
NR_137635.1:n.159+7667_159+7668insCTAT
NR_137636.1:n.1554_1555insCTAT
NM_000055.4:c.1387_1388insCTAT MANE Select NP_000046.1:p.Gly463AlafsTer8
NR_137635.2:n.110+7667_110+7668insCTAT
NR_137636.2:n.1505_1506insCTAT