Canonical Allele Identifier: CA335171

Gene: EMD

Linked Data

• ClinVar Variation Id: 201781
• ClinVar RCV Id: RCV000183450 ; RCV001827989
• dbSNP Id: rs794729019
• MyVariant Identifiers: chrX:g.153609337_153609339del (hg19) ; chrX:g.154380977_154380979del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380977_154380979del , CM000685.2:g.154380977_154380979del	GRCh38
NC_000023.10:g.153609337_153609339del , CM000685.1:g.153609337_153609339del	GRCh37
NC_000023.9:g.153262531_153262533del	NCBI36
NG_008677.1:g.11542_11544del , LRG_745:g.11542_11544del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.545_547del	ENSP00000507245.1:p.Tyr182_Pro183delinsSe...
ENST00000682478.1:n.735_737del
ENST00000683576.1:n.735_737del
ENST00000683627.1:c.545_547del	ENSP00000507533.1:p.Tyr182_Pro183delinsSe...
ENST00000684082.1:c.502_504del	ENSP00000508266.1:n.502_504del
ENST00000684633.1:n.517_519del
ENST00000684678.1:c.541_543del	ENSP00000507059.1:n.541_543del
ENST00000369842.9:c.545_547del MANE Select	ENSP00000358857.4:p.Tyr182_Pro183delinsSe...
ENST00000369835.3:c.440_442del	ENSP00000358850.3:p.Tyr147_Pro148delinsSe...
ENST00000369842.8:c.545_547del	ENSP00000358857.4:p.Tyr182_Pro183delinsSe...
ENST00000428228.5:c.*450_*452del	ENSP00000401081.1:n.*450_*452del
ENST00000471965.1:n.334_336del
ENST00000486738.5:n.982_984del
ENST00000492448.1:n.528_530del
NM_000117.2:c.545_547del , LRG_745t1:c.545_547del	NP_000108.1:p.Tyr182_Pro183delinsSer
XM_024452349.1:c.551_553del	XP_024308117.1:p.Tyr184_Pro185delinsSer
NM_000117.3:c.545_547del MANE Select	NP_000108.1:p.Tyr182_Pro183delinsSer