Canonical Allele Identifier: CA2668432402

Gene: BCHE

Linked Data

• gnomAD v4: 3-165830393-CCAAAGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830395_165830400del , CM000665.2:g.165830395_165830400del	GRCh38
NC_000003.11:g.165548183_165548188del , CM000665.1:g.165548183_165548188del	GRCh37
NC_000003.10:g.167030877_167030882del	NCBI36
NG_009031.1:g.12067_12072del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.635_640del MANE Select	ENSP00000264381.3:p.Ala212_Phe213del
ENST00000264381.7:c.635_640del	ENSP00000264381.3:p.Ala212_Phe213del
ENST00000479451.5:c.107+6915_107+6920del	ENSP00000418325.1:n.107+6915_107+6920del
ENST00000482958.1:c.635_640del	ENSP00000419804.1:p.Ala212_Phe213del
ENST00000488954.1:c.107+6915_107+6920del	ENSP00000418504.1:n.107+6915_107+6920del
ENST00000497011.5:c.635_640del	ENSP00000419505.1:p.Ala212_Phe213del
NM_000055.2:c.635_640del	NP_000046.1:p.Ala212_Phe213del
XM_005247685.1:c.758_763del	XP_005247742.1:p.Ala253_Phe254del
NM_000055.3:c.635_640del	NP_000046.1:p.Ala212_Phe213del
NR_137635.1:n.159+6915_159+6920del
NR_137636.1:n.802_807del
NM_000055.4:c.635_640del MANE Select	NP_000046.1:p.Ala212_Phe213del
NR_137635.2:n.110+6915_110+6920del
NR_137636.2:n.753_758del