Canonical Allele Identifier: CA2692320

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165829639_165829640insT , CM000665.2:g.165829639_165829640insT	GRCh38
NC_000003.11:g.165547427_165547428insT , CM000665.1:g.165547427_165547428insT	GRCh37
NC_000003.10:g.167030121_167030122insT	NCBI36
NG_009031.1:g.12826_12827insA

Transcript Alleles

HGVS	Amino-acid Change
NM_000055.4:c.1394_1395insA MANE Select	NP_000046.1:p.Met465IlefsTer5
ENST00000264381.8:c.1394_1395insA MANE Select	ENSP00000264381.3:p.Met465IlefsTer5
NM_000055.2:c.1394_1395insA	NP_000046.1:p.Met465IlefsTer5
NM_000055.3:c.1394_1395insA	NP_000046.1:p.Met465IlefsTer5
NR_137635.1:n.159+7674_159+7675insA
NR_137635.2:n.110+7674_110+7675insA
NR_137636.1:n.1561_1562insA
NR_137636.2:n.1512_1513insA
ENST00000264381.7:c.1394_1395insA	ENSP00000264381.3:p.Met465IlefsTer5
ENST00000479451.5:c.107+7674_107+7675insA	ENSP00000418325.1:n.107+7674_107+7675insA
ENST00000482958.1:c.1394_1395insA	ENSP00000419804.1:p.Met465IlefsTer5
ENST00000488954.1:c.107+7674_107+7675insA	ENSP00000418504.1:n.107+7674_107+7675insA
ENST00000497011.5:c.1394_1395insA	ENSP00000419505.1:p.Met465IlefsTer5
XM_005247685.1:c.1517_1518insA	XP_005247742.1:p.Met506IlefsTer5