Canonical Allele Identifier: CA645372695

Gene: EMD

Linked Data

• ClinVar Variation Id: 433168
• ClinVar RCV Id: RCV000497779
• dbSNP Id: rs1557182198

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379530_154379572del , CM000685.2:g.154379530_154379572del	GRCh38
NC_000023.10:g.153607890_153607932del , CM000685.1:g.153607890_153607932del	GRCh37
NC_000023.9:g.153261084_153261126del	NCBI36
NG_008677.1:g.10095_10137del , LRG_745:g.10095_10137del
NG_011506.1:g.75_117del
NG_011506.2:g.67_109del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.46_82+6del
ENST00000682478.1:n.22_58+6del
ENST00000683576.1:n.22_58+6del
ENST00000683627.1:c.46_82+6del
ENST00000684082.1:c.46_82+6del
ENST00000684633.1:n.22_54+10del
ENST00000684678.1:c.46_78+10del
ENST00000369842.9:c.46_82+6del
ENST00000369835.3:c.46_82+6del
ENST00000369842.8:c.46_82+6del
ENST00000428228.5:c.46_53+35del
ENST00000468294.5:n.6_42+6del
ENST00000485261.1:n.127_163+6del
ENST00000486738.5:n.190_226+6del
ENST00000494443.5:n.103_139+6del
NM_000117.2:c.46_82+6del , LRG_745t1:c.46_82+6del
XM_024452349.1:c.-163_-127+6del
NM_000117.3:c.46_82+6del