Canonical Allele Identifier: CA873317619

Gene: EMD

Linked Data

• dbSNP Id: rs1176142241
• gnomAD v3: X-154379567-GTACGCGGCGGCGGGCGGGAC-G
• gnomAD v4: X-154379567-GTACGCGGCGGCGGGCGGGAC-G
• MyVariant Identifiers: chrX:g.154379568_154379587del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379568_154379587del , CM000685.2:g.154379568_154379587del	GRCh38
NC_000023.10:g.153607928_153607947del , CM000685.1:g.153607928_153607947del	GRCh37
NC_000023.9:g.153261122_153261141del	NCBI36
NG_008677.1:g.10133_10152del , LRG_745:g.10133_10152del
NG_011506.1:g.60_79del
NG_011506.2:g.52_71del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.82+2_82+21del	ENSP00000507245.1:n.82+2_82+21del
ENST00000682478.1:n.58+2_58+21del
ENST00000683576.1:n.58+2_58+21del
ENST00000683627.1:c.82+2_82+21del	ENSP00000507533.1:n.82+2_82+21del
ENST00000684082.1:c.82+2_82+21del	ENSP00000508266.1:n.82+2_82+21del
ENST00000684633.1:n.54+6_54+25del
ENST00000684678.1:c.78+6_78+25del	ENSP00000507059.1:n.78+6_78+25del
ENST00000369842.9:c.82+2_82+21del MANE Select	ENSP00000358857.4:n.82+2_82+21del
ENST00000369835.3:c.82+2_82+21del	ENSP00000358850.3:n.82+2_82+21del
ENST00000369842.8:c.82+2_82+21del	ENSP00000358857.4:n.82+2_82+21del
ENST00000428228.5:c.53+31_53+50del	ENSP00000401081.1:n.53+31_53+50del
ENST00000468294.5:n.42+2_42+21del
ENST00000485261.1:n.163+2_163+21del
ENST00000486738.5:n.226+2_226+21del
ENST00000494443.5:n.139+2_139+21del
NM_000117.2:c.82+2_82+21del , LRG_745t1:c.82+2_82+21del	NP_000108.1:n.82+2_82+21del
XM_024452349.1:c.-127+2_-127+21del	XP_024308117.1:n.-127+2_-127+21del
NM_000117.3:c.82+2_82+21del MANE Select	NP_000108.1:n.82+2_82+21del