Canonical Allele Identifier: CA1417759725

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165829931_165829932delinsTC , CM000665.2:g.165829931_165829932delinsTC	GRCh38
NC_000003.11:g.165547719_165547720delinsTC , CM000665.1:g.165547719_165547720delinsTC	GRCh37
NC_000003.10:g.167030413_167030414delinsTC	NCBI36
NG_009031.1:g.12534_12535delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1102_1103delinsGA MANE Select	ENSP00000264381.3:p.Asp368=
ENST00000264381.7:c.1102_1103delinsGA	ENSP00000264381.3:p.Asp368=
ENST00000479451.5:c.107+7382_107+7383delinsGA	ENSP00000418325.1:n.107+7382_107+7383delinsGA
ENST00000482958.1:c.1102_1103delinsGA	ENSP00000419804.1:p.Asp368=
ENST00000488954.1:c.107+7382_107+7383delinsGA	ENSP00000418504.1:n.107+7382_107+7383delinsGA
ENST00000497011.5:c.1102_1103delinsGA	ENSP00000419505.1:p.Asp368=
NM_000055.2:c.1102_1103delinsGA	NP_000046.1:p.Asp368=
XM_005247685.1:c.1225_1226delinsGA	XP_005247742.1:p.Asp409=
NM_000055.3:c.1102_1103delinsGA	NP_000046.1:p.Asp368=
NR_137635.1:n.159+7382_159+7383delinsGA
NR_137636.1:n.1269_1270delinsGA
NM_000055.4:c.1102_1103delinsGA MANE Select	NP_000046.1:p.Asp368=
NR_137635.2:n.110+7382_110+7383delinsGA
NR_137636.2:n.1220_1221delinsGA