Canonical Allele Identifier: CA633897981

Gene: EMC10

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50480721dup , CM000681.2:g.50480721dup	GRCh38
NC_000019.9:g.50983978dup , CM000681.1:g.50983978dup	GRCh37
NC_000019.8:g.55675790dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_206538.4:c.543dup MANE Select	NP_996261.1:p.Asn182GlnfsTer16
ENST00000334976.11:c.543dup MANE Select	ENSP00000334037.6:p.Asn182GlnfsTer16
NM_175063.5:c.543dup	NP_778233.4:p.Asn182GlnfsTer16
NM_175063.6:c.543dup	NP_778233.4:p.Asn182GlnfsTer16
NM_206538.3:c.543dup	NP_996261.1:p.Asn182GlnfsTer16
ENST00000334976.10:c.543dup	ENSP00000334037.5:p.Asn182GlnfsTer16
ENST00000376918.7:c.543dup	ENSP00000366117.2:p.Asn182GlnfsTer16
ENST00000598585.1:c.543dup	ENSP00000472420.1:p.Asn182GlnfsTer16
ENST00000599293.1:c.*479dup	ENSP00000472714.1:n.*479dup
ENST00000601780.5:c.*479dup	ENSP00000470164.1:n.*479dup
XM_006723162.2:c.543dup	XP_006723225.1:p.Asn182GlnfsTer16
XM_006723163.2:c.543dup	XP_006723226.1:p.Asn182GlnfsTer16
XM_006723163.3:c.543dup	XP_006723226.1:p.Asn182GlnfsTer16
XM_011526818.1:c.543dup	XP_011525120.1:p.Asn182GlnfsTer16
XM_011526818.2:c.543dup	XP_011525120.1:p.Asn182GlnfsTer16
XM_011526819.1:c.543dup	XP_011525121.1:p.Asn182GlnfsTer16