Canonical Allele Identifier: CA913102373

Gene: BCHE

Linked Data

• MyVariant Identifiers: chr3:g.165548672_165548673del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830884_165830885del , CM000665.2:g.165830884_165830885del	GRCh38
NC_000003.11:g.165548672_165548673del , CM000665.1:g.165548672_165548673del	GRCh37
NC_000003.10:g.167031366_167031367del	NCBI36
NG_009031.1:g.11582_11583del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.150_151del MANE Select	ENSP00000264381.3:p.Gly51HisfsTer17
ENST00000264381.7:c.150_151del	ENSP00000264381.3:p.Gly51HisfsTer17
ENST00000479451.5:c.107+6430_107+6431del	ENSP00000418325.1:n.107+6430_107+6431del
ENST00000482958.1:c.150_151del	ENSP00000419804.1:p.Gly51HisfsTer17
ENST00000488954.1:c.107+6430_107+6431del	ENSP00000418504.1:n.107+6430_107+6431del
ENST00000497011.5:c.150_151del	ENSP00000419505.1:p.Gly51HisfsTer17
NM_000055.2:c.150_151del	NP_000046.1:p.Gly51HisfsTer17
XM_005247685.1:c.273_274del	XP_005247742.1:p.Gly92HisfsTer17
NM_000055.3:c.150_151del	NP_000046.1:p.Gly51HisfsTer17
NR_137635.1:n.159+6430_159+6431del
NR_137636.1:n.317_318del
NM_000055.4:c.150_151del MANE Select	NP_000046.1:p.Gly51HisfsTer17
NR_137635.2:n.110+6430_110+6431del
NR_137636.2:n.268_269del