Canonical Allele Identifier: CA2695237019

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380893_154380897dup , CM000685.2:g.154380893_154380897dup	GRCh38
NC_000023.10:g.153609253_153609257dup , CM000685.1:g.153609253_153609257dup	GRCh37
NC_000023.9:g.153262447_153262451dup	NCBI36
NG_008677.1:g.11458_11462dup , LRG_745:g.11458_11462dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.461_465dup	ENSP00000507245.1:p.Gly156CysfsTer?
ENST00000682478.1:n.651_655dup
ENST00000683576.1:n.651_655dup
ENST00000683627.1:c.461_465dup	ENSP00000507533.1:p.Gly156CysfsTer?
ENST00000684082.1:c.418_422dup	ENSP00000508266.1:n.418_422dup
ENST00000684633.1:n.433_437dup
ENST00000684678.1:c.457_461dup	ENSP00000507059.1:n.457_461dup
ENST00000369842.9:c.461_465dup MANE Select	ENSP00000358857.4:p.Gly156CysfsTer?
ENST00000369835.3:c.356_360dup	ENSP00000358850.3:p.Gly121CysfsTer?
ENST00000369842.8:c.461_465dup	ENSP00000358857.4:p.Gly156CysfsTer?
ENST00000428228.5:c.*366_*370dup	ENSP00000401081.1:n.*366_*370dup
ENST00000471965.1:n.250_254dup
ENST00000485261.1:n.730_734dup
ENST00000486738.5:n.898_902dup
ENST00000492448.1:n.444_448dup
NM_000117.2:c.461_465dup , LRG_745t1:c.461_465dup	NP_000108.1:p.Gly156CysfsTer?
XM_024452349.1:c.467_471dup	XP_024308117.1:p.Gly158CysfsTer?
NM_000117.3:c.461_465dup MANE Select	NP_000108.1:p.Gly156CysfsTer?