Canonical Allele Identifier: CA2580102045

Gene: EMD

Linked Data

• ClinVar Variation Id: 11173
• ClinVar RCV Id: RCV000011923

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379539_154379690del , CM000685.2:g.154379539_154379690del	GRCh38
NC_000023.10:g.153607899_153608050del , CM000685.1:g.153607899_153608050del	GRCh37
NC_000023.9:g.153261093_153261244del	NCBI36
NG_008677.1:g.10104_10255del , LRG_745:g.10104_10255del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.55_83del
ENST00000682478.1:n.31_59del
ENST00000683576.1:n.31_59del
ENST00000683627.1:c.55_83del
ENST00000684082.1:c.55_83del
ENST00000684633.1:n.31_55del
ENST00000684678.1:c.55_79del
ENST00000369842.9:c.55_83del
ENST00000369835.3:c.55_82+124del
ENST00000369842.8:c.55_83del
ENST00000428228.5:c.53+2_54del
ENST00000468294.5:n.15_43del
ENST00000485261.1:n.136_163+124del
ENST00000486738.5:n.199_227del
ENST00000494443.5:n.112_140del
NM_000117.2:c.55_83del , LRG_745t1:c.55_83del
XM_024452349.1:c.-154_-126del
NM_000117.3:c.55_83del