Canonical Allele Identifier: CA2668431697

Gene: BCHE

Linked Data

• gnomAD v4: 3-165830032-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830034del , CM000665.2:g.165830034del	GRCh38
NC_000003.11:g.165547822del , CM000665.1:g.165547822del	GRCh37
NC_000003.10:g.167030516del	NCBI36
NG_009031.1:g.12433del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1001del MANE Select	ENSP00000264381.3:p.Leu334TyrfsTer25
ENST00000264381.7:c.1001del	ENSP00000264381.3:p.Leu334TyrfsTer25
ENST00000479451.5:c.107+7281del	ENSP00000418325.1:n.107+7281del
ENST00000482958.1:c.1001del	ENSP00000419804.1:p.Leu334TyrfsTer25
ENST00000488954.1:c.107+7281del	ENSP00000418504.1:n.107+7281del
ENST00000497011.5:c.1001del	ENSP00000419505.1:p.Leu334TyrfsTer25
NM_000055.2:c.1001del	NP_000046.1:p.Leu334TyrfsTer25
XM_005247685.1:c.1124del	XP_005247742.1:p.Leu375TyrfsTer25
NM_000055.3:c.1001del	NP_000046.1:p.Leu334TyrfsTer25
NR_137635.1:n.159+7281del
NR_137636.1:n.1168del
NM_000055.4:c.1001del MANE Select	NP_000046.1:p.Leu334TyrfsTer25
NR_137635.2:n.110+7281del
NR_137636.2:n.1119del