Canonical Allele Identifier: CA1417758969

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165829433_165829434delinsCT , CM000665.2:g.165829433_165829434delinsCT	GRCh38
NC_000003.11:g.165547221_165547222delinsCT , CM000665.1:g.165547221_165547222delinsCT	GRCh37
NC_000003.10:g.167029915_167029916delinsCT	NCBI36
NG_009031.1:g.13032_13033delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1517+83_1517+84delinsAG MANE Select	ENSP00000264381.3:n.1517+83_1517+84delinsAG
ENST00000264381.7:c.1517+83_1517+84delinsAG	ENSP00000264381.3:n.1517+83_1517+84delinsAG
ENST00000479451.5:c.107+7880_107+7881delinsAG	ENSP00000418325.1:n.107+7880_107+7881delinsAG
ENST00000482958.1:c.1517+83_1517+84delinsAG	ENSP00000419804.1:n.1517+83_1517+84delinsAG
ENST00000488954.1:c.107+7880_107+7881delinsAG	ENSP00000418504.1:n.107+7880_107+7881delinsAG
ENST00000497011.5:c.1517+83_1517+84delinsAG	ENSP00000419505.1:n.1517+83_1517+84delinsAG
NM_000055.2:c.1517+83_1517+84delinsAG	NP_000046.1:n.1517+83_1517+84delinsAG
XM_005247685.1:c.1640+83_1640+84delinsAG	XP_005247742.1:n.1640+83_1640+84delinsAG
NM_000055.3:c.1517+83_1517+84delinsAG	NP_000046.1:n.1517+83_1517+84delinsAG
NR_137635.1:n.159+7880_159+7881delinsAG
NR_137636.1:n.1684+83_1684+84delinsAG
NM_000055.4:c.1517+83_1517+84delinsAG MANE Select	NP_000046.1:n.1517+83_1517+84delinsAG
NR_137635.2:n.110+7880_110+7881delinsAG
NR_137636.2:n.1635+83_1635+84delinsAG