Canonical Allele Identifier: CA2668431699

Gene: BCHE

Linked Data

• gnomAD v4: 3-165830049-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830050_165830051del , CM000665.2:g.165830050_165830051del	GRCh38
NC_000003.11:g.165547838_165547839del , CM000665.1:g.165547838_165547839del	GRCh37
NC_000003.10:g.167030532_167030533del	NCBI36
NG_009031.1:g.12415_12416del

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.983_984del MANE Select	ENSP00000264381.3:p.Thr328ArgfsTer8
ENST00000264381.7:c.983_984del	ENSP00000264381.3:p.Thr328ArgfsTer8
ENST00000479451.5:c.107+7263_107+7264del	ENSP00000418325.1:n.107+7263_107+7264del
ENST00000482958.1:c.983_984del	ENSP00000419804.1:p.Thr328ArgfsTer8
ENST00000488954.1:c.107+7263_107+7264del	ENSP00000418504.1:n.107+7263_107+7264del
ENST00000497011.5:c.983_984del	ENSP00000419505.1:p.Thr328ArgfsTer8
NM_000055.2:c.983_984del	NP_000046.1:p.Thr328ArgfsTer8
XM_005247685.1:c.1106_1107del	XP_005247742.1:p.Thr369ArgfsTer8
NM_000055.3:c.983_984del	NP_000046.1:p.Thr328ArgfsTer8
NR_137635.1:n.159+7263_159+7264del
NR_137636.1:n.1150_1151del
NM_000055.4:c.983_984del MANE Select	NP_000046.1:p.Thr328ArgfsTer8
NR_137635.2:n.110+7263_110+7264del
NR_137636.2:n.1101_1102del