Canonical Allele Identifier: CA913102369

Gene: BCHE

Linked Data

• MyVariant Identifiers: chr3:g.165547557_165547560del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165829770_165829773del , CM000665.2:g.165829770_165829773del	GRCh38
NC_000003.11:g.165547558_165547561del , CM000665.1:g.165547558_165547561del	GRCh37
NC_000003.10:g.167030252_167030255del	NCBI36
NG_009031.1:g.12694_12697del

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.1262_1265del MANE Select	ENSP00000264381.3:p.Val421GlyfsTer?
ENST00000264381.7:c.1262_1265del	ENSP00000264381.3:p.Val421GlyfsTer?
ENST00000479451.5:c.107+7542_107+7545del	ENSP00000418325.1:n.107+7542_107+7545del
ENST00000482958.1:c.1262_1265del	ENSP00000419804.1:p.Val421GlyfsTer?
ENST00000488954.1:c.107+7542_107+7545del	ENSP00000418504.1:n.107+7542_107+7545del
ENST00000497011.5:c.1262_1265del	ENSP00000419505.1:p.Val421GlyfsTer?
NM_000055.2:c.1262_1265del	NP_000046.1:p.Val421GlyfsTer?
XM_005247685.1:c.1385_1388del	XP_005247742.1:p.Val462GlyfsTer?
NM_000055.3:c.1262_1265del	NP_000046.1:p.Val421GlyfsTer?
NR_137635.1:n.159+7542_159+7545del
NR_137636.1:n.1429_1432del
NM_000055.4:c.1262_1265del MANE Select	NP_000046.1:p.Val421GlyfsTer?
NR_137635.2:n.110+7542_110+7545del
NR_137636.2:n.1380_1383del