Canonical Allele Identifier: CA2759252883

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830294_165830313del , CM000665.2:g.165830294_165830313del	GRCh38
NC_000003.11:g.165548082_165548101del , CM000665.1:g.165548082_165548101del	GRCh37
NC_000003.10:g.167030776_167030795del	NCBI36
NG_009031.1:g.12161_12180del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.729_748del MANE Select	ENSP00000264381.3:p.Leu244AlafsTer6
ENST00000264381.7:c.729_748del	ENSP00000264381.3:p.Leu244AlafsTer6
ENST00000479451.5:c.107+7009_107+7028del	ENSP00000418325.1:n.107+7009_107+7028del
ENST00000482958.1:c.729_748del	ENSP00000419804.1:p.Leu244AlafsTer6
ENST00000488954.1:c.107+7009_107+7028del	ENSP00000418504.1:n.107+7009_107+7028del
ENST00000497011.5:c.729_748del	ENSP00000419505.1:p.Leu244AlafsTer6
NM_000055.2:c.729_748del	NP_000046.1:p.Leu244AlafsTer6
XM_005247685.1:c.852_871del	XP_005247742.1:p.Leu285AlafsTer6
NM_000055.3:c.729_748del	NP_000046.1:p.Leu244AlafsTer6
NR_137635.1:n.159+7009_159+7028del
NR_137636.1:n.896_915del
NM_000055.4:c.729_748del MANE Select	NP_000046.1:p.Leu244AlafsTer6
NR_137635.2:n.110+7009_110+7028del
NR_137636.2:n.847_866del