Canonical Allele Identifier: CA355111546

Gene: BCHE

Linked Data

• MyVariant Identifiers: chr3:g.165830000_165830008del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830000_165830008del , CM000665.2:g.165830000_165830008del	GRCh38
NC_000003.11:g.165547788_165547796del , CM000665.1:g.165547788_165547796del	GRCh37
NC_000003.10:g.167030482_167030490del	NCBI36
NG_009031.1:g.12458_12466del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1026_1034del MANE Select	ENSP00000264381.3:p.Lys342_Ile345delinsAsn
ENST00000264381.7:c.1026_1034del	ENSP00000264381.3:p.Lys342_Ile345delinsAsn
ENST00000479451.5:c.107+7306_107+7314del	ENSP00000418325.1:n.107+7306_107+7314del
ENST00000482958.1:c.1026_1034del	ENSP00000419804.1:p.Lys342_Ile345delinsAsn
ENST00000488954.1:c.107+7306_107+7314del	ENSP00000418504.1:n.107+7306_107+7314del
ENST00000497011.5:c.1026_1034del	ENSP00000419505.1:p.Lys342_Ile345delinsAsn
NM_000055.2:c.1026_1034del	NP_000046.1:p.Lys342_Ile345delinsAsn
XM_005247685.1:c.1149_1157del	XP_005247742.1:p.Lys383_Ile386delinsAsn
NM_000055.3:c.1026_1034del	NP_000046.1:p.Lys342_Ile345delinsAsn
NR_137635.1:n.159+7306_159+7314del
NR_137636.1:n.1193_1201del
NM_000055.4:c.1026_1034del MANE Select	NP_000046.1:p.Lys342_Ile345delinsAsn
NR_137635.2:n.110+7306_110+7314del
NR_137636.2:n.1144_1152del