Canonical Allele Identifier: CA1417760773
Gene: BCHE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165830598_165830599delinsAA , CM000665.2:g.165830598_165830599delinsAA GRCh38
NC_000003.11:g.165548386_165548387delinsAA , CM000665.1:g.165548386_165548387delinsAA GRCh37
NC_000003.10:g.167031080_167031081delinsAA NCBI36
NG_009031.1:g.11867_11868delinsTT

Transcript Alleles

HGVS Amino-acid change
ENST00000264381.8:c.435_436delinsTT MANE Select ENSP00000264381.3:p.Gly145=
ENST00000264381.7:c.435_436delinsTT ENSP00000264381.3:p.Gly145=
ENST00000479451.5:c.107+6715_107+6716delinsTT ENSP00000418325.1:n.107+6715_107+6716deli...
ENST00000482958.1:c.435_436delinsTT ENSP00000419804.1:p.Gly145=
ENST00000488954.1:c.107+6715_107+6716delinsTT ENSP00000418504.1:n.107+6715_107+6716deli...
ENST00000497011.5:c.435_436delinsTT ENSP00000419505.1:p.Gly145=
NM_000055.2:c.435_436delinsTT NP_000046.1:p.Gly145=
XM_005247685.1:c.558_559delinsTT XP_005247742.1:p.Gly186=
NM_000055.3:c.435_436delinsTT NP_000046.1:p.Gly145=
NR_137635.1:n.159+6715_159+6716delinsTT
NR_137636.1:n.602_603delinsTT
NM_000055.4:c.435_436delinsTT MANE Select NP_000046.1:p.Gly145=
NR_137635.2:n.110+6715_110+6716delinsTT
NR_137636.2:n.553_554delinsTT