Canonical Allele Identifier: CA645372696

Gene: EMD

Linked Data

• ClinVar Variation Id: 433167
• ClinVar RCV Id: RCV000498959
• dbSNP Id: rs1557182286
• MyVariant Identifiers: chrX:g.153608088_153608122del (hg19) ; chrX:g.154379728_154379762del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379728_154379762del , CM000685.2:g.154379728_154379762del	GRCh38
NC_000023.10:g.153608088_153608122del , CM000685.1:g.153608088_153608122del	GRCh37
NC_000023.9:g.153261282_153261316del	NCBI36
NG_008677.1:g.10293_10327del , LRG_745:g.10293_10327del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.121_155del	ENSP00000507245.1:p.Tyr41LeufsTer8
ENST00000682478.1:n.97_131del
ENST00000683576.1:n.97_131del
ENST00000683627.1:c.121_155del	ENSP00000507533.1:p.Tyr41LeufsTer8
ENST00000684082.1:c.121_155del	ENSP00000508266.1:p.Tyr41LeufsTer8
ENST00000684633.1:n.93_127del
ENST00000684678.1:c.117_151del	ENSP00000507059.1:p.Thr40SerfsTer?
ENST00000369842.9:c.121_155del MANE Select	ENSP00000358857.4:p.Tyr41LeufsTer8
ENST00000369835.3:c.82+162_83-180del	ENSP00000358850.3:n.82+162_83-180del
ENST00000369842.8:c.121_155del	ENSP00000358857.4:p.Tyr41LeufsTer8
ENST00000428228.5:c.*26_*60del	ENSP00000401081.1:n.*26_*60del
ENST00000468294.5:n.81_115del
ENST00000485261.1:n.163+162_164-180del
ENST00000486738.5:n.265_299del
ENST00000492448.1:n.104_138del
ENST00000494443.5:n.178_212del
NM_000117.2:c.121_155del , LRG_745t1:c.121_155del	NP_000108.1:p.Tyr41LeufsTer8
XM_024452349.1:c.-88_-54del	XP_024308117.1:n.-88_-54del
NM_000117.3:c.121_155del MANE Select	NP_000108.1:p.Tyr41LeufsTer8