Canonical Allele Identifier: CA1417759834

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165829998_165830007delinsAAATCTGGGT , CM000665.2:g.165829998_165830007delinsAAATCTGGGT	GRCh38
NC_000003.11:g.165547786_165547795delinsAAATCTGGGT , CM000665.1:g.165547786_165547795delinsAAATCTGGGT	GRCh37
NC_000003.10:g.167030480_167030489delinsAAATCTGGGT	NCBI36
NG_009031.1:g.12459_12468delinsACCCAGATTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1027_1036delinsACCCAGATTT MANE Select	ENSP00000264381.3:p.Thr343=
ENST00000264381.7:c.1027_1036delinsACCCAGATTT	ENSP00000264381.3:p.Thr343=
ENST00000479451.5:c.107+7307_107+7316delinsACCCAGATTT	ENSP00000418325.1:n.107+7307_107+7316delinsACCCAGATTT
ENST00000482958.1:c.1027_1036delinsACCCAGATTT	ENSP00000419804.1:p.Thr343=
ENST00000488954.1:c.107+7307_107+7316delinsACCCAGATTT	ENSP00000418504.1:n.107+7307_107+7316delinsACCCAGATTT
ENST00000497011.5:c.1027_1036delinsACCCAGATTT	ENSP00000419505.1:p.Thr343=
NM_000055.2:c.1027_1036delinsACCCAGATTT	NP_000046.1:p.Thr343=
XM_005247685.1:c.1150_1159delinsACCCAGATTT	XP_005247742.1:p.Thr384=
NM_000055.3:c.1027_1036delinsACCCAGATTT	NP_000046.1:p.Thr343=
NR_137635.1:n.159+7307_159+7316delinsACCCAGATTT
NR_137636.1:n.1194_1203delinsACCCAGATTT
NM_000055.4:c.1027_1036delinsACCCAGATTT MANE Select	NP_000046.1:p.Thr343=
NR_137635.2:n.110+7307_110+7316delinsACCCAGATTT
NR_137636.2:n.1145_1154delinsACCCAGATTT