Canonical Allele Identifier: CA519277990

Gene: EMD

Linked Data

• dbSNP Id: rs1480319651
• gnomAD v3: X-154380083-CAGGG-C
• gnomAD v4: X-154380083-CAGGG-C
• MyVariant Identifiers: chrX:g.153608444_153608447del (hg19) ; chrX:g.154380084_154380087del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380087_154380090del , CM000685.2:g.154380087_154380090del	GRCh38
NC_000023.10:g.153608447_153608450del , CM000685.1:g.153608447_153608450del	GRCh37
NC_000023.9:g.153261641_153261644del	NCBI36
NG_008677.1:g.10652_10655del , LRG_745:g.10652_10655del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.265+68_265+71del	ENSP00000507245.1:n.265+68_265+71del
ENST00000682478.1:n.309_312del
ENST00000683576.1:n.309_312del
ENST00000683627.1:c.265+68_265+71del	ENSP00000507533.1:n.265+68_265+71del
ENST00000684082.1:c.265+68_265+71del	ENSP00000508266.1:n.265+68_265+71del
ENST00000684633.1:n.237+68_237+71del
ENST00000684678.1:c.261+68_261+71del	ENSP00000507059.1:n.261+68_261+71del
ENST00000369842.9:c.265+68_265+71del MANE Select	ENSP00000358857.4:n.265+68_265+71del
ENST00000369835.3:c.160+68_160+71del	ENSP00000358850.3:n.160+68_160+71del
ENST00000369842.8:c.265+68_265+71del	ENSP00000358857.4:n.265+68_265+71del
ENST00000428228.5:c.*170+68_*170+71del	ENSP00000401081.1:n.*170+68_*170+71del
ENST00000468294.5:n.225+68_225+71del
ENST00000485261.1:n.309_312del
ENST00000486738.5:n.477_480del
ENST00000492448.1:n.248+68_248+71del
ENST00000494443.5:n.390_393del
NM_000117.2:c.265+68_265+71del , LRG_745t1:c.265+68_265+71del	NP_000108.1:n.265+68_265+71del
XM_024452349.1:c.125_128del	XP_024308117.1:p.Gly42AspfsTer13
NM_000117.3:c.265+68_265+71del MANE Select	NP_000108.1:n.265+68_265+71del