Canonical Allele Identifier: CA645290611

Gene: EMD

Linked Data

• dbSNP Id: rs1322567805
• gnomAD v2: X-153608506-AGGTCCCGAAATGG-A
• gnomAD v3: X-154380146-AGGTCCCGAAATGG-A
• gnomAD v4: X-154380146-AGGTCCCGAAATGG-A
• MyVariant Identifiers: chrX:g.153608507_153608519del (hg19) ; chrX:g.154380147_154380159del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380148_154380160del , CM000685.2:g.154380148_154380160del	GRCh38
NC_000023.10:g.153608508_153608520del , CM000685.1:g.153608508_153608520del	GRCh37
NC_000023.9:g.153261702_153261714del	NCBI36
NG_008677.1:g.10713_10725del , LRG_745:g.10713_10725del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.266-86_266-74del	ENSP00000507245.1:n.266-86_266-74del
ENST00000682478.1:n.370_382del
ENST00000683576.1:n.370_382del
ENST00000683627.1:c.266-86_266-74del	ENSP00000507533.1:n.266-86_266-74del
ENST00000684082.1:c.266-129_266-117del	ENSP00000508266.1:n.266-129_266-117del
ENST00000684633.1:n.238-86_238-74del
ENST00000684678.1:c.262-86_262-74del	ENSP00000507059.1:n.262-86_262-74del
ENST00000369842.9:c.266-86_266-74del MANE Select	ENSP00000358857.4:n.266-86_266-74del
ENST00000369835.3:c.161-86_161-74del	ENSP00000358850.3:n.161-86_161-74del
ENST00000369842.8:c.266-86_266-74del	ENSP00000358857.4:n.266-86_266-74del
ENST00000428228.5:c.*171-86_*171-74del	ENSP00000401081.1:n.*171-86_*171-74del
ENST00000468294.5:n.226-86_226-74del
ENST00000485261.1:n.370_382del
ENST00000486738.5:n.538_550del
ENST00000492448.1:n.249-86_249-74del
ENST00000494443.5:n.451_463del
NM_000117.2:c.266-86_266-74del , LRG_745t1:c.266-86_266-74del	NP_000108.1:n.266-86_266-74del
XM_024452349.1:c.186_198del	XP_024308117.1:p.Ser63PhefsTer?
NM_000117.3:c.266-86_266-74del MANE Select	NP_000108.1:n.266-86_266-74del