Canonical Allele Identifier: CA2692370

Gene: BCHE

Linked Data

• dbSNP Id: rs753284945
• ExAC: 3:165547712 ATTG / A
• gnomAD v2: 3-165547712-ATTG-A
• gnomAD v4: 3-165829924-ATTG-A
• MyVariant Identifiers: chr3:g.165547713_165547715del (hg19) ; chr3:g.165829925_165829927del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165829927_165829929del , CM000665.2:g.165829927_165829929del	GRCh38
NC_000003.11:g.165547715_165547717del , CM000665.1:g.165547715_165547717del	GRCh37
NC_000003.10:g.167030409_167030411del	NCBI36
NG_009031.1:g.12539_12541del

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.1107_1109del MANE Select	ENSP00000264381.3:p.Asn370del
ENST00000264381.7:c.1107_1109del	ENSP00000264381.3:p.Asn370del
ENST00000479451.5:c.107+7387_107+7389del	ENSP00000418325.1:n.107+7387_107+7389del
ENST00000482958.1:c.1107_1109del	ENSP00000419804.1:p.Asn370del
ENST00000488954.1:c.107+7387_107+7389del	ENSP00000418504.1:n.107+7387_107+7389del
ENST00000497011.5:c.1107_1109del	ENSP00000419505.1:p.Asn370del
NM_000055.2:c.1107_1109del	NP_000046.1:p.Asn370del
XM_005247685.1:c.1230_1232del	XP_005247742.1:p.Asn411del
NM_000055.3:c.1107_1109del	NP_000046.1:p.Asn370del
NR_137635.1:n.159+7387_159+7389del
NR_137636.1:n.1274_1276del
NM_000055.4:c.1107_1109del MANE Select	NP_000046.1:p.Asn370del
NR_137635.2:n.110+7387_110+7389del
NR_137636.2:n.1225_1227del