Canonical Allele Identifier: CA2692420

Gene: BCHE

Linked Data

• dbSNP Id: rs757549524
• ExAC: 3:165547986 CCAGT / C
• gnomAD v2: 3-165547986-CCAGT-C
• gnomAD v3: 3-165830198-CCAGT-C
• gnomAD v4: 3-165830198-CCAGT-C
• MyVariant Identifiers: chr3:g.165547987_165547990del (hg19) ; chr3:g.165830199_165830202del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830201_165830204del , CM000665.2:g.165830201_165830204del	GRCh38
NC_000003.11:g.165547989_165547992del , CM000665.1:g.165547989_165547992del	GRCh37
NC_000003.10:g.167030683_167030686del	NCBI36
NG_009031.1:g.12264_12267del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.832_835del MANE Select	ENSP00000264381.3:p.Thr278ValfsTer10
ENST00000264381.7:c.832_835del	ENSP00000264381.3:p.Thr278ValfsTer10
ENST00000479451.5:c.107+7112_107+7115del	ENSP00000418325.1:n.107+7112_107+7115del
ENST00000482958.1:c.832_835del	ENSP00000419804.1:p.Thr278ValfsTer10
ENST00000488954.1:c.107+7112_107+7115del	ENSP00000418504.1:n.107+7112_107+7115del
ENST00000497011.5:c.832_835del	ENSP00000419505.1:p.Thr278ValfsTer10
NM_000055.2:c.832_835del	NP_000046.1:p.Thr278ValfsTer10
XM_005247685.1:c.955_958del	XP_005247742.1:p.Thr319ValfsTer10
NM_000055.3:c.832_835del	NP_000046.1:p.Thr278ValfsTer10
NR_137635.1:n.159+7112_159+7115del
NR_137636.1:n.999_1002del
NM_000055.4:c.832_835del MANE Select	NP_000046.1:p.Thr278ValfsTer10
NR_137635.2:n.110+7112_110+7115del
NR_137636.2:n.950_953del