Canonical Allele Identifier: CA2692483

Gene: BCHE

Linked Data

• ClinVar Variation Id: 2437111
• ClinVar RCV Id: RCV003141031
• dbSNP Id: rs759643427
• ExAC: 3:165548284 CTAGGGCACCCACCCTA / C
• gnomAD v2: 3-165548284-CTAGGGCACCCACCCTA-C
• gnomAD v4: 3-165830496-CTAGGGCACCCACCCTA-C
• MyVariant Identifiers: chr3:g.165548285_165548300del (hg19) ; chr3:g.165830497_165830512del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830500_165830515del , CM000665.2:g.165830500_165830515del	GRCh38
NC_000003.11:g.165548288_165548303del , CM000665.1:g.165548288_165548303del	GRCh37
NC_000003.10:g.167030982_167030997del	NCBI36
NG_009031.1:g.11954_11969del

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.522_537del MANE Select	ENSP00000264381.3:p.Tyr174Ter
ENST00000264381.7:c.522_537del	ENSP00000264381.3:p.Tyr174Ter
ENST00000479451.5:c.107+6802_107+6817del	ENSP00000418325.1:n.107+6802_107+6817del
ENST00000482958.1:c.522_537del	ENSP00000419804.1:p.Tyr174Ter
ENST00000488954.1:c.107+6802_107+6817del	ENSP00000418504.1:n.107+6802_107+6817del
ENST00000497011.5:c.522_537del	ENSP00000419505.1:p.Tyr174Ter
NM_000055.2:c.522_537del	NP_000046.1:p.Tyr174Ter
XM_005247685.1:c.645_660del	XP_005247742.1:p.Tyr215Ter
NM_000055.3:c.522_537del	NP_000046.1:p.Tyr174Ter
NR_137635.1:n.159+6802_159+6817del
NR_137636.1:n.689_704del
NM_000055.4:c.522_537del MANE Select	NP_000046.1:p.Tyr174Ter
NR_137635.2:n.110+6802_110+6817del
NR_137636.2:n.640_655del