Canonical Allele Identifier: CA273589

Gene: EMD

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154381082_154381086dup , CM000685.2:g.154381082_154381086dup	GRCh38
NC_000023.10:g.153609442_153609446dup , CM000685.1:g.153609442_153609446dup	GRCh37
NC_000023.9:g.153262636_153262640dup	NCBI36
NG_008677.1:g.11647_11651dup , LRG_745:g.11647_11651dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.572+78_572+82dup	ENSP00000507245.1:n.572+78_572+82dup
ENST00000682478.1:n.762+78_762+82dup
ENST00000683576.1:n.840_844dup
ENST00000683627.1:c.650_654dup	ENSP00000507533.1:p.Gln219TrpfsTer20
ENST00000684082.1:c.607_611dup	ENSP00000508266.1:n.607_611dup
ENST00000684633.1:n.622_626dup
ENST00000684678.1:c.568+78_568+82dup	ENSP00000507059.1:n.568+78_568+82dup
ENST00000369842.9:c.650_654dup MANE Select	ENSP00000358857.4:p.Gln219TrpfsTer20
ENST00000369835.3:c.545_549dup	ENSP00000358850.3:p.Gln184TrpfsTer20
ENST00000369842.8:c.650_654dup	ENSP00000358857.4:p.Gln219TrpfsTer20
ENST00000428228.5:c.*555_*559dup	ENSP00000401081.1:n.*555_*559dup
ENST00000471965.1:n.439_443dup
ENST00000486738.5:n.1087_1091dup
ENST00000492448.1:n.633_637dup
NM_000117.2:c.650_654dup , LRG_745t1:c.650_654dup	NP_000108.1:p.Gln219TrpfsTer20
XM_024452349.1:c.656_660dup	XP_024308117.1:p.Gln221TrpfsTer20
NM_000117.3:c.650_654dup MANE Select	NP_000108.1:p.Gln219TrpfsTer20