Canonical Allele Identifier: CA1417760540
Gene: BCHE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165830415_165830416delinsGA , CM000665.2:g.165830415_165830416delinsGA GRCh38
NC_000003.11:g.165548203_165548204delinsGA , CM000665.1:g.165548203_165548204delinsGA GRCh37
NC_000003.10:g.167030897_167030898delinsGA NCBI36
NG_009031.1:g.12050_12051delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000264381.8:c.618_619delinsTC MANE Select ENSP00000264381.3:p.Val206=
ENST00000264381.7:c.618_619delinsTC ENSP00000264381.3:p.Val206=
ENST00000479451.5:c.107+6898_107+6899delinsTC ENSP00000418325.1:n.107+6898_107+6899delinsTC
ENST00000482958.1:c.618_619delinsTC ENSP00000419804.1:p.Val206=
ENST00000488954.1:c.107+6898_107+6899delinsTC ENSP00000418504.1:n.107+6898_107+6899delinsTC
ENST00000497011.5:c.618_619delinsTC ENSP00000419505.1:p.Val206=
NM_000055.2:c.618_619delinsTC NP_000046.1:p.Val206=
XM_005247685.1:c.741_742delinsTC XP_005247742.1:p.Val247=
NM_000055.3:c.618_619delinsTC NP_000046.1:p.Val206=
NR_137635.1:n.159+6898_159+6899delinsTC
NR_137636.1:n.785_786delinsTC
NM_000055.4:c.618_619delinsTC MANE Select NP_000046.1:p.Val206=
NR_137635.2:n.110+6898_110+6899delinsTC
NR_137636.2:n.736_737delinsTC