Canonical Allele Identifier: CA1055955464

Gene: BCHE

Linked Data

• gnomAD v3: 3-165798762-A-AGGATTTCTTGAGCCAGCTACTTGGGAAGCTGGACTGAGTTAGG
• gnomAD v4: 3-165798762-A-AGGATTTCTTGAGCCAGCTACTTGGGAAGCTGGACTGAGTTAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165798762_165798763insGGATTTCTTGAGCCAGCTACTTGGGAAGCTGGACTGAGTTAGG , CM000665.2:g.165798762_165798763insGGATTTCTTGAGCCAGCTACTTGGGAAGCTGGACTGAGTTAGG	GRCh38
NC_000003.11:g.165516550_165516551insGGATTTCTTGAGCCAGCTACTTGGGAAGCTGGACTGAGTTAGG , CM000665.1:g.165516550_165516551insGGATTTCTTGAGCCAGCTACTTGGGAAGCTGGACTGAGTTAGG	GRCh37
NC_000003.10:g.166999244_166999245insGGATTTCTTGAGCCAGCTACTTGGGAAGCTGGACTGAGTTAGG	NCBI36
NG_009031.1:g.43703_43704insCCTAACTCAGTCCAGCTTCCCAAGTAGCTGGCTCAAGAAATCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1518-12452_1518-12451insCCTAACTCAGTCCAGCTTCCCAAGTAGCTGGCTCAAGAAATCC MANE Select	ENSP00000264381.3:n.1518-12452_1518-12451insCCTAACTCAGTCCAGCT...
ENST00000264381.7:c.1518-12452_1518-12451insCCTAACTCAGTCCAGCTTCCCAAGTAGCTGGCTCAAGAAATCC	ENSP00000264381.3:n.1518-12452_1518-12451insCCTAACTCAGTCCAGCT...
ENST00000479451.5:c.108-12452_108-12451insCCTAACTCAGTCCAGCTTCCCAAGTAGCTGGCTCAAGAAATCC	ENSP00000418325.1:n.108-12452_108-12451insCCTAACTCAGTCCAGCTTC...
ENST00000482958.1:c.*24-12452_*24-12451insCCTAACTCAGTCCAGCTTCCCAAGTAGCTGGCTCAAGAAATCC	ENSP00000419804.1:n.*24-12452_*24-12451insCCTAACTCAGTCCAGCTTC...
ENST00000488954.1:c.108-12452_108-12451insCCTAACTCAGTCCAGCTTCCCAAGTAGCTGGCTCAAGAAATCC	ENSP00000418504.1:n.108-12452_108-12451insCCTAACTCAGTCCAGCTTC...
ENST00000497011.5:c.1518-12452_1518-12451insCCTAACTCAGTCCAGCTTCCCAAGTAGCTGGCTCAAGAAATCC	ENSP00000419505.1:n.1518-12452_1518-12451insCCTAACTCAGTCCAGCT...
NM_000055.2:c.1518-12452_1518-12451insCCTAACTCAGTCCAGCTTCCCAAGTAGCTGGCTCAAGAAATCC	NP_000046.1:n.1518-12452_1518-12451insCCTAACTCAGTCCAGCTTCCCAA...
XM_005247685.1:c.1641-12452_1641-12451insCCTAACTCAGTCCAGCTTCCCAAGTAGCTGGCTCAAGAAATCC	XP_005247742.1:n.1641-12452_1641-12451insCCTAACTCAGTCCAGCTTCC...
NM_000055.3:c.1518-12452_1518-12451insCCTAACTCAGTCCAGCTTCCCAAGTAGCTGGCTCAAGAAATCC	NP_000046.1:n.1518-12452_1518-12451insCCTAACTCAGTCCAGCTTCCCAA...
NR_137635.1:n.160-12452_160-12451insCCTAACTCAGTCCAGCTTCCCAAGTAGCTGGCTCAAGAAATCC
NR_137636.1:n.1685-12452_1685-12451insCCTAACTCAGTCCAGCTTCCCAAGTAGCTGGCTCAAGAAATCC
NM_000055.4:c.1518-12452_1518-12451insCCTAACTCAGTCCAGCTTCCCAAGTAGCTGGCTCAAGAAATCC MANE Select	NP_000046.1:n.1518-12452_1518-12451insCCTAACTCAGTCCAGCTTCCCAA...
NR_137635.2:n.111-12452_111-12451insCCTAACTCAGTCCAGCTTCCCAAGTAGCTGGCTCAAGAAATCC
NR_137636.2:n.1636-12452_1636-12451insCCTAACTCAGTCCAGCTTCCCAAGTAGCTGGCTCAAGAAATCC