Canonical Allele Identifier: CA547744230

Gene: BCHE

Linked Data

• dbSNP Id: rs1474920169
• gnomAD v2: 3-165491265-T-TCCACTCCCATTCTGCTTC
• gnomAD v4: 3-165773477-T-TCCACTCCCATTCTGCTTC
• MyVariant Identifiers: chr3:g.165491265_165491266insCCACTCCCATTCTGCTTC (hg19) ; chr3:g.165773477_165773478insCCACTCCCATTCTGCTTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165773478_165773495dup , CM000665.2:g.165773478_165773495dup	GRCh38
NC_000003.11:g.165491266_165491283dup , CM000665.1:g.165491266_165491283dup	GRCh37
NC_000003.10:g.166973960_166973977dup	NCBI36
NG_009031.1:g.68971_68988dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.1696_1713dup MANE Select	ENSP00000264381.3:p.Trp571_Lys572insGluAl...
ENST00000264381.7:c.1696_1713dup	ENSP00000264381.3:p.Trp571_Lys572insGluAl...
ENST00000479451.5:c.286_303dup	ENSP00000418325.1:p.Trp101_Lys102insGluAl...
ENST00000482958.1:c.*202_*219dup	ENSP00000419804.1:n.*202_*219dup
ENST00000497011.5:c.*86_*103dup	ENSP00000419505.1:n.*86_*103dup
NM_000055.2:c.1696_1713dup	NP_000046.1:p.Trp571_Lys572insGluAlaGluTr...
XM_005247685.1:c.1819_1836dup	XP_005247742.1:p.Trp612_Lys613insGluAlaGl...
NM_000055.3:c.1696_1713dup	NP_000046.1:p.Trp571_Lys572insGluAlaGluTr...
NR_137635.1:n.338_355dup
NR_137636.1:n.1942_1959dup
NM_000055.4:c.1696_1713dup MANE Select	NP_000046.1:p.Trp571_Lys572insGluAlaGluTr...
NR_137635.2:n.289_306dup
NR_137636.2:n.1893_1910dup