Canonical Allele Identifier: CA873318683

Gene: EMD

Linked Data

• dbSNP Id: rs1474214145
• gnomAD v3: X-154380486-CTG-C
• gnomAD v4: X-154380486-CTG-C
• MyVariant Identifiers: chrX:g.154380487_154380488del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380491_154380492del , CM000685.2:g.154380491_154380492del	GRCh38
NC_000023.10:g.153608851_153608852del , CM000685.1:g.153608851_153608852del	GRCh37
NC_000023.9:g.153262045_153262046del	NCBI36
NG_008677.1:g.11056_11057del , LRG_745:g.11056_11057del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.399+124_399+125del	ENSP00000507245.1:n.399+124_399+125del
ENST00000682478.1:n.589+124_589+125del
ENST00000683576.1:n.589+124_589+125del
ENST00000683627.1:c.399+124_399+125del	ENSP00000507533.1:n.399+124_399+125del
ENST00000684082.1:c.356+124_356+125del	ENSP00000508266.1:n.356+124_356+125del
ENST00000684633.1:n.371+124_371+125del
ENST00000684678.1:c.395+124_395+125del	ENSP00000507059.1:n.395+124_395+125del
ENST00000369842.9:c.399+124_399+125del MANE Select	ENSP00000358857.4:n.399+124_399+125del
ENST00000369835.3:c.294+124_294+125del	ENSP00000358850.3:n.294+124_294+125del
ENST00000369842.8:c.399+124_399+125del	ENSP00000358857.4:n.399+124_399+125del
ENST00000428228.5:c.*304+124_*304+125del	ENSP00000401081.1:n.*304+124_*304+125del
ENST00000468294.5:n.359+124_359+125del
ENST00000485261.1:n.589+124_589+125del
ENST00000486738.5:n.757+124_757+125del
ENST00000492448.1:n.382+124_382+125del
NM_000117.2:c.399+124_399+125del , LRG_745t1:c.399+124_399+125del	NP_000108.1:n.399+124_399+125del
XM_024452349.1:c.405+124_405+125del	XP_024308117.1:n.405+124_405+125del
NM_000117.3:c.399+124_399+125del MANE Select	NP_000108.1:n.399+124_399+125del