Canonical Allele Identifier: CA10561648

Gene: EMD

Linked Data

• dbSNP Id: rs782238794
• ExAC: X:153609405 GCCAT / G
• MyVariant Identifiers: chrX:g.153609406_153609409del (hg19) ; chrX:g.154381046_154381049del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154381048_154381051del , CM000685.2:g.154381048_154381051del	GRCh38
NC_000023.10:g.153609408_153609411del , CM000685.1:g.153609408_153609411del	GRCh37
NC_000023.9:g.153262602_153262605del	NCBI36
NG_008677.1:g.11613_11616del , LRG_745:g.11613_11616del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.572+44_572+47del	ENSP00000507245.1:n.572+44_572+47del
ENST00000682478.1:n.762+44_762+47del
ENST00000683576.1:n.806_809del
ENST00000683627.1:c.616_619del	ENSP00000507533.1:p.Ile206GlyfsTer30
ENST00000684082.1:c.573_576del	ENSP00000508266.1:n.573_576del
ENST00000684633.1:n.588_591del
ENST00000684678.1:c.568+44_568+47del	ENSP00000507059.1:n.568+44_568+47del
ENST00000369842.9:c.616_619del MANE Select	ENSP00000358857.4:p.Ile206GlyfsTer30
ENST00000369835.3:c.511_514del	ENSP00000358850.3:p.Ile171GlyfsTer30
ENST00000369842.8:c.616_619del	ENSP00000358857.4:p.Ile206GlyfsTer30
ENST00000428228.5:c.*521_*524del	ENSP00000401081.1:n.*521_*524del
ENST00000471965.1:n.405_408del
ENST00000486738.5:n.1053_1056del
ENST00000492448.1:n.599_602del
NM_000117.2:c.616_619del , LRG_745t1:c.616_619del	NP_000108.1:p.Ile206GlyfsTer30
XM_024452349.1:c.622_625del	XP_024308117.1:p.Ile208GlyfsTer30
NM_000117.3:c.616_619del MANE Select	NP_000108.1:p.Ile206GlyfsTer30