Canonical Allele Identifier: CA2692370
Gene: BCHE HGNC NCBI

Linked Data

dbSNP Id: rs753284945

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165829927_165829929del , CM000665.2:g.165829927_165829929del GRCh38
NC_000003.11:g.165547715_165547717del , CM000665.1:g.165547715_165547717del GRCh37
NC_000003.10:g.167030409_167030411del NCBI36
NG_009031.1:g.12539_12541del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264381.8:c.1107_1109del MANE Select ENSP00000264381.3:p.Asn370del
ENST00000264381.7:c.1107_1109del ENSP00000264381.3:p.Asn370del
ENST00000479451.5:c.107+7387_107+7389del ENSP00000418325.1:n.107+7387_107+7389del
ENST00000482958.1:c.1107_1109del ENSP00000419804.1:p.Asn370del
ENST00000488954.1:c.107+7387_107+7389del ENSP00000418504.1:n.107+7387_107+7389del
ENST00000497011.5:c.1107_1109del ENSP00000419505.1:p.Asn370del
NM_000055.2:c.1107_1109del NP_000046.1:p.Asn370del
XM_005247685.1:c.1230_1232del XP_005247742.1:p.Asn411del
NM_000055.3:c.1107_1109del NP_000046.1:p.Asn370del
NR_137635.1:n.159+7387_159+7389del
NR_137636.1:n.1274_1276del
NM_000055.4:c.1107_1109del MANE Select NP_000046.1:p.Asn370del
NR_137635.2:n.110+7387_110+7389del
NR_137636.2:n.1225_1227del