Canonical Allele Identifier: CA645531105

Gene: BCHE

Linked Data

• COSMIC: COSM6458234

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165829663_165829666del , CM000665.2:g.165829663_165829666del	GRCh38
NC_000003.11:g.165547451_165547454del , CM000665.1:g.165547451_165547454del	GRCh37
NC_000003.10:g.167030145_167030148del	NCBI36
NG_009031.1:g.12801_12804del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1369_1372del MANE Select	ENSP00000264381.3:p.Pro457GlyfsTer7
ENST00000264381.7:c.1369_1372del	ENSP00000264381.3:p.Pro457GlyfsTer7
ENST00000479451.5:c.107+7649_107+7652del	ENSP00000418325.1:n.107+7649_107+7652del
ENST00000482958.1:c.1369_1372del	ENSP00000419804.1:p.Pro457GlyfsTer7
ENST00000488954.1:c.107+7649_107+7652del	ENSP00000418504.1:n.107+7649_107+7652del
ENST00000497011.5:c.1369_1372del	ENSP00000419505.1:p.Pro457GlyfsTer7
NM_000055.2:c.1369_1372del	NP_000046.1:p.Pro457GlyfsTer7
XM_005247685.1:c.1492_1495del	XP_005247742.1:p.Pro498GlyfsTer7
NM_000055.3:c.1369_1372del	NP_000046.1:p.Pro457GlyfsTer7
NR_137635.1:n.159+7649_159+7652del
NR_137636.1:n.1536_1539del
NM_000055.4:c.1369_1372del MANE Select	NP_000046.1:p.Pro457GlyfsTer7
NR_137635.2:n.110+7649_110+7652del
NR_137636.2:n.1487_1490del