Canonical Allele Identifier: CA2692386

Gene: BCHE

Linked Data

• dbSNP Id: rs764498866
• ExAC: 3:165547786 AAATCTGGGT / A
• gnomAD v2: 3-165547786-AAATCTGGGT-A
• MyVariant Identifiers: chr3:g.165547787_165547795del (hg19) ; chr3:g.165829999_165830007del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165829999_165830007del , CM000665.2:g.165829999_165830007del	GRCh38
NC_000003.11:g.165547787_165547795del , CM000665.1:g.165547787_165547795del	GRCh37
NC_000003.10:g.167030481_167030489del	NCBI36
NG_009031.1:g.12459_12467del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1027_1035del MANE Select	ENSP00000264381.3:p.Thr343_Ile345del
ENST00000264381.7:c.1027_1035del	ENSP00000264381.3:p.Thr343_Ile345del
ENST00000479451.5:c.107+7307_107+7315del	ENSP00000418325.1:n.107+7307_107+7315del
ENST00000482958.1:c.1027_1035del	ENSP00000419804.1:p.Thr343_Ile345del
ENST00000488954.1:c.107+7307_107+7315del	ENSP00000418504.1:n.107+7307_107+7315del
ENST00000497011.5:c.1027_1035del	ENSP00000419505.1:p.Thr343_Ile345del
NM_000055.2:c.1027_1035del	NP_000046.1:p.Thr343_Ile345del
XM_005247685.1:c.1150_1158del	XP_005247742.1:p.Thr384_Ile386del
NM_000055.3:c.1027_1035del	NP_000046.1:p.Thr343_Ile345del
NR_137635.1:n.159+7307_159+7315del
NR_137636.1:n.1194_1202del
NM_000055.4:c.1027_1035del MANE Select	NP_000046.1:p.Thr343_Ile345del
NR_137635.2:n.110+7307_110+7315del
NR_137636.2:n.1145_1153del