Canonical Allele Identifier: CA1417759496

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165829769_165829772delinsCCAA , CM000665.2:g.165829769_165829772delinsCCAA	GRCh38
NC_000003.11:g.165547557_165547560delinsCCAA , CM000665.1:g.165547557_165547560delinsCCAA	GRCh37
NC_000003.10:g.167030251_167030254delinsCCAA	NCBI36
NG_009031.1:g.12694_12697delinsTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1262_1265delinsTTGG MANE Select	ENSP00000264381.3:p.Val421=
ENST00000264381.7:c.1262_1265delinsTTGG	ENSP00000264381.3:p.Val421=
ENST00000479451.5:c.107+7542_107+7545delinsTTGG	ENSP00000418325.1:n.107+7542_107+7545delinsTTGG
ENST00000482958.1:c.1262_1265delinsTTGG	ENSP00000419804.1:p.Val421=
ENST00000488954.1:c.107+7542_107+7545delinsTTGG	ENSP00000418504.1:n.107+7542_107+7545delinsTTGG
ENST00000497011.5:c.1262_1265delinsTTGG	ENSP00000419505.1:p.Val421=
NM_000055.2:c.1262_1265delinsTTGG	NP_000046.1:p.Val421=
XM_005247685.1:c.1385_1388delinsTTGG	XP_005247742.1:p.Val462=
NM_000055.3:c.1262_1265delinsTTGG	NP_000046.1:p.Val421=
NR_137635.1:n.159+7542_159+7545delinsTTGG
NR_137636.1:n.1429_1432delinsTTGG
NM_000055.4:c.1262_1265delinsTTGG MANE Select	NP_000046.1:p.Val421=
NR_137635.2:n.110+7542_110+7545delinsTTGG
NR_137636.2:n.1380_1383delinsTTGG