Canonical Allele Identifier: CA1417759926
Gene: BCHE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165830043_165830044delinsGC , CM000665.2:g.165830043_165830044delinsGC GRCh38
NC_000003.11:g.165547831_165547832delinsGC , CM000665.1:g.165547831_165547832delinsGC GRCh37
NC_000003.10:g.167030525_167030526delinsGC NCBI36
NG_009031.1:g.12422_12423delinsGC

Transcript Alleles

HGVS Amino-acid change
ENST00000264381.8:c.990_991delinsGC MANE Select ENSP00000264381.3:p.Met330=
ENST00000264381.7:c.990_991delinsGC ENSP00000264381.3:p.Met330=
ENST00000479451.5:c.107+7270_107+7271delinsGC ENSP00000418325.1:n.107+7270_107+7271delinsGC
ENST00000482958.1:c.990_991delinsGC ENSP00000419804.1:p.Met330=
ENST00000488954.1:c.107+7270_107+7271delinsGC ENSP00000418504.1:n.107+7270_107+7271delinsGC
ENST00000497011.5:c.990_991delinsGC ENSP00000419505.1:p.Met330=
NM_000055.2:c.990_991delinsGC NP_000046.1:p.Met330=
XM_005247685.1:c.1113_1114delinsGC XP_005247742.1:p.Met371=
NM_000055.3:c.990_991delinsGC NP_000046.1:p.Met330=
NR_137635.1:n.159+7270_159+7271delinsGC
NR_137636.1:n.1157_1158delinsGC
NM_000055.4:c.990_991delinsGC MANE Select NP_000046.1:p.Met330=
NR_137635.2:n.110+7270_110+7271delinsGC
NR_137636.2:n.1108_1109delinsGC