Canonical Allele Identifier: CA2668431691

Gene: BCHE

Linked Data

• gnomAD v4: 3-165829967-GCTGTCCCTTCAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165829970_165829981del , CM000665.2:g.165829970_165829981del	GRCh38
NC_000003.11:g.165547758_165547769del , CM000665.1:g.165547758_165547769del	GRCh37
NC_000003.10:g.167030452_167030463del	NCBI36
NG_009031.1:g.12487_12498del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1055_1066del MANE Select	ENSP00000264381.3:p.Asp352_Thr355del
ENST00000264381.7:c.1055_1066del	ENSP00000264381.3:p.Asp352_Thr355del
ENST00000479451.5:c.107+7335_107+7346del	ENSP00000418325.1:n.107+7335_107+7346del
ENST00000482958.1:c.1055_1066del	ENSP00000419804.1:p.Asp352_Thr355del
ENST00000488954.1:c.107+7335_107+7346del	ENSP00000418504.1:n.107+7335_107+7346del
ENST00000497011.5:c.1055_1066del	ENSP00000419505.1:p.Asp352_Thr355del
NM_000055.2:c.1055_1066del	NP_000046.1:p.Asp352_Thr355del
XM_005247685.1:c.1178_1189del	XP_005247742.1:p.Asp393_Thr396del
NM_000055.3:c.1055_1066del	NP_000046.1:p.Asp352_Thr355del
NR_137635.1:n.159+7335_159+7346del
NR_137636.1:n.1222_1233del
NM_000055.4:c.1055_1066del MANE Select	NP_000046.1:p.Asp352_Thr355del
NR_137635.2:n.110+7335_110+7346del
NR_137636.2:n.1173_1184del