Canonical Allele Identifier: CA10561502

Gene: EMD

Linked Data

• dbSNP Id: rs781876944
• ExAC: X:153607978 TCGCGACCTCCCCGCTGCCCTCCCCG / T
• gnomAD v2: X-153607978-TCGCGACCTCCCCGCTGCCCTCCCCG-T
• gnomAD v3: X-154379618-TCGCGACCTCCCCGCTGCCCTCCCCG-T
• gnomAD v4: X-154379618-TCGCGACCTCCCCGCTGCCCTCCCCG-T
• MyVariant Identifiers: chrX:g.153607979_153608003del (hg19) ; chrX:g.154379619_154379643del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379623_154379647del , CM000685.2:g.154379623_154379647del	GRCh38
NC_000023.10:g.153607983_153608007del , CM000685.1:g.153607983_153608007del	GRCh37
NC_000023.9:g.153261177_153261201del	NCBI36
NG_008677.1:g.10188_10212del , LRG_745:g.10188_10212del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.82+57_83-43del	ENSP00000507245.1:n.82+57_83-43del
ENST00000682478.1:n.58+57_59-43del
ENST00000683576.1:n.58+57_59-43del
ENST00000683627.1:c.82+57_83-43del	ENSP00000507533.1:n.82+57_83-43del
ENST00000684082.1:c.82+57_83-43del	ENSP00000508266.1:n.82+57_83-43del
ENST00000684633.1:n.54+61_55-43del
ENST00000684678.1:c.78+61_79-43del	ENSP00000507059.1:n.78+61_79-43del
ENST00000369842.9:c.82+57_83-43del MANE Select	ENSP00000358857.4:n.82+57_83-43del
ENST00000369835.3:c.82+57_82+81del	ENSP00000358850.3:n.82+57_82+81del
ENST00000369842.8:c.82+57_83-43del	ENSP00000358857.4:n.82+57_83-43del
ENST00000428228.5:c.54-67_54-43del	ENSP00000401081.1:n.54-67_54-43del
ENST00000468294.5:n.42+57_43-43del
ENST00000485261.1:n.163+57_163+81del
ENST00000486738.5:n.226+57_227-43del
ENST00000494443.5:n.139+57_140-43del
NM_000117.2:c.82+57_83-43del , LRG_745t1:c.82+57_83-43del	NP_000108.1:n.82+57_83-43del
XM_024452349.1:c.-127+57_-126-43del	XP_024308117.1:n.-127+57_-126-43del
NM_000117.3:c.82+57_83-43del MANE Select	NP_000108.1:n.82+57_83-43del