Canonical Allele Identifier: CA220362

Gene: EMD

Linked Data

• ClinVar Variation Id: 92439
• ClinVar RCV Id: RCV000178044
• dbSNP Id: rs398123156
• MyVariant Identifiers: chrX:g.153608612_153608626del (hg19) ; chrX:g.153608612_153608626delATGAAGAGAGCTACT (hg19) ; chrX:g.154380252_154380266del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380252_154380266del , CM000685.2:g.154380252_154380266del	GRCh38
NC_000023.10:g.153608612_153608626del , CM000685.1:g.153608612_153608626del	GRCh37
NC_000023.9:g.153261806_153261820del	NCBI36
NG_008677.1:g.10817_10831del , LRG_745:g.10817_10831del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.284_298del	ENSP00000507245.1:p.Tyr95_Tyr99del
ENST00000682478.1:n.474_488del
ENST00000683576.1:n.474_488del
ENST00000683627.1:c.284_298del	ENSP00000507533.1:p.Tyr95_Tyr99del
ENST00000684082.1:c.266-25_266-11del	ENSP00000508266.1:n.266-25_266-11del
ENST00000684633.1:n.256_270del
ENST00000684678.1:c.280_294del	ENSP00000507059.1:n.280_294del
ENST00000369842.9:c.284_298del MANE Select	ENSP00000358857.4:p.Tyr95_Tyr99del
ENST00000369835.3:c.179_193del	ENSP00000358850.3:p.Tyr60_Tyr64del
ENST00000369842.8:c.284_298del	ENSP00000358857.4:p.Tyr95_Tyr99del
ENST00000428228.5:c.*189_*203del	ENSP00000401081.1:n.*189_*203del
ENST00000468294.5:n.244_258del
ENST00000485261.1:n.474_488del
ENST00000486738.5:n.642_656del
ENST00000492448.1:n.267_281del
ENST00000494443.5:n.555_569del
NM_000117.2:c.284_298del , LRG_745t1:c.284_298del	NP_000108.1:p.Tyr95_Tyr99del
XM_024452349.1:c.290_304del	XP_024308117.1:p.Tyr97_Tyr101del
NM_000117.3:c.284_298del MANE Select	NP_000108.1:p.Tyr95_Tyr99del