Canonical Allele Identifier: CA436969259

Gene: BCHE

Linked Data

• MyVariant Identifiers: chr3:g.165547795_165547796insA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830007_165830008insA , CM000665.2:g.165830007_165830008insA	GRCh38
NC_000003.11:g.165547795_165547796insA , CM000665.1:g.165547795_165547796insA	GRCh37
NC_000003.10:g.167030489_167030490insA	NCBI36
NG_009031.1:g.12458_12459insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1026_1027insT MANE Select	ENSP00000264381.3:p.Thr343TyrfsTer8
ENST00000264381.7:c.1026_1027insT	ENSP00000264381.3:p.Thr343TyrfsTer8
ENST00000479451.5:c.107+7306_107+7307insT	ENSP00000418325.1:n.107+7306_107+7307insT
ENST00000482958.1:c.1026_1027insT	ENSP00000419804.1:p.Thr343TyrfsTer8
ENST00000488954.1:c.107+7306_107+7307insT	ENSP00000418504.1:n.107+7306_107+7307insT
ENST00000497011.5:c.1026_1027insT	ENSP00000419505.1:p.Thr343TyrfsTer8
NM_000055.2:c.1026_1027insT	NP_000046.1:p.Thr343TyrfsTer8
XM_005247685.1:c.1149_1150insT	XP_005247742.1:p.Thr384TyrfsTer8
NM_000055.3:c.1026_1027insT	NP_000046.1:p.Thr343TyrfsTer8
NR_137635.1:n.159+7306_159+7307insT
NR_137636.1:n.1193_1194insT
NM_000055.4:c.1026_1027insT MANE Select	NP_000046.1:p.Thr343TyrfsTer8
NR_137635.2:n.110+7306_110+7307insT
NR_137636.2:n.1144_1145insT