Canonical Allele Identifier: CA913102374

Gene: BCHE

Linked Data

• MyVariant Identifiers: chr3:g.165504001dup (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165786213dup , CM000665.2:g.165786213dup	GRCh38
NC_000003.11:g.165504001dup , CM000665.1:g.165504001dup	GRCh37
NC_000003.10:g.166986695dup	NCBI36
NG_009031.1:g.56253dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000264381.8:c.1616dup MANE Select	ENSP00000264381.3:p.Met539IlefsTer27
ENST00000264381.7:c.1616dup	ENSP00000264381.3:p.Met539IlefsTer27
ENST00000479451.5:c.206dup	ENSP00000418325.1:p.Met69IlefsTer27
ENST00000482958.1:c.*122dup	ENSP00000419804.1:n.*122dup
ENST00000488954.1:c.206dup	ENSP00000418504.1:p.Met69IlefsTer31
ENST00000497011.5:c.1616dup	ENSP00000419505.1:p.Met539IlefsTer?
NM_000055.2:c.1616dup	NP_000046.1:p.Met539IlefsTer27
XM_005247685.1:c.1739dup	XP_005247742.1:p.Met580IlefsTer27
NM_000055.3:c.1616dup	NP_000046.1:p.Met539IlefsTer27
NR_137635.1:n.258dup
NR_137636.1:n.1783dup
NM_000055.4:c.1616dup MANE Select	NP_000046.1:p.Met539IlefsTer27
NR_137635.2:n.209dup
NR_137636.2:n.1734dup