Canonical Allele Identifier: CA2668431702

Gene: BCHE

Linked Data

• gnomAD v4: 3-165830061-C-CAGTGAGAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830062_165830063insGTGAGAAAA , CM000665.2:g.165830062_165830063insGTGAGAAAA	GRCh38
NC_000003.11:g.165547850_165547851insGTGAGAAAA , CM000665.1:g.165547850_165547851insGTGAGAAAA	GRCh37
NC_000003.10:g.167030544_167030545insGTGAGAAAA	NCBI36
NG_009031.1:g.12404_12405insTTTCTCACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.972_973insTTTCTCACT MANE Select	ENSP00000264381.3:p.Gly324_Asp325insPheLeuThr
ENST00000264381.7:c.972_973insTTTCTCACT	ENSP00000264381.3:p.Gly324_Asp325insPheLeuThr
ENST00000479451.5:c.107+7252_107+7253insTTTCTCACT	ENSP00000418325.1:n.107+7252_107+7253insTTTCTCACT
ENST00000482958.1:c.972_973insTTTCTCACT	ENSP00000419804.1:p.Gly324_Asp325insPheLeuThr
ENST00000488954.1:c.107+7252_107+7253insTTTCTCACT	ENSP00000418504.1:n.107+7252_107+7253insTTTCTCACT
ENST00000497011.5:c.972_973insTTTCTCACT	ENSP00000419505.1:p.Gly324_Asp325insPheLeuThr
NM_000055.2:c.972_973insTTTCTCACT	NP_000046.1:p.Gly324_Asp325insPheLeuThr
XM_005247685.1:c.1095_1096insTTTCTCACT	XP_005247742.1:p.Gly365_Asp366insPheLeuThr
NM_000055.3:c.972_973insTTTCTCACT	NP_000046.1:p.Gly324_Asp325insPheLeuThr
NR_137635.1:n.159+7252_159+7253insTTTCTCACT
NR_137636.1:n.1139_1140insTTTCTCACT
NM_000055.4:c.972_973insTTTCTCACT MANE Select	NP_000046.1:p.Gly324_Asp325insPheLeuThr
NR_137635.2:n.110+7252_110+7253insTTTCTCACT
NR_137636.2:n.1090_1091insTTTCTCACT