Canonical Allele Identifier: CA2697544776

Gene: EMD

Linked Data

• ClinVar Variation Id: 2751362
• ClinVar RCV Id: RCV003524418

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380026_154380027insTTTACTCTACCAGAGCA , CM000685.2:g.154380026_154380027insTTTACTCTACCAGAGCA	GRCh38
NC_000023.10:g.153608386_153608387insTTTACTCTACCAGAGCA , CM000685.1:g.153608386_153608387insTTTACTCTACCAGAGCA	GRCh37
NC_000023.9:g.153261580_153261581insTTTACTCTACCAGAGCA	NCBI36
NG_008677.1:g.10591_10592insTTTACTCTACCAGAGCA , LRG_745:g.10591_10592insTTTACTCTACCAGAGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.265+7_265+8insTTTACTCTACCAGAGCA	ENSP00000507245.1:n.265+7_265+8insTTTACTCTACCAGAGCA
ENST00000682478.1:n.248_249insTTTACTCTACCAGAGCA
ENST00000683576.1:n.248_249insTTTACTCTACCAGAGCA
ENST00000683627.1:c.265+7_265+8insTTTACTCTACCAGAGCA	ENSP00000507533.1:n.265+7_265+8insTTTACTCTACCAGAGCA
ENST00000684082.1:c.265+7_265+8insTTTACTCTACCAGAGCA	ENSP00000508266.1:n.265+7_265+8insTTTACTCTACCAGAGCA
ENST00000684633.1:n.237+7_237+8insTTTACTCTACCAGAGCA
ENST00000684678.1:c.261+7_261+8insTTTACTCTACCAGAGCA	ENSP00000507059.1:n.261+7_261+8insTTTACTCTACCAGAGCA
ENST00000369842.9:c.265+7_265+8insTTTACTCTACCAGAGCA MANE Select	ENSP00000358857.4:n.265+7_265+8insTTTACTCTACCAGAGCA
ENST00000369835.3:c.160+7_160+8insTTTACTCTACCAGAGCA	ENSP00000358850.3:n.160+7_160+8insTTTACTCTACCAGAGCA
ENST00000369842.8:c.265+7_265+8insTTTACTCTACCAGAGCA	ENSP00000358857.4:n.265+7_265+8insTTTACTCTACCAGAGCA
ENST00000428228.5:c.*170+7_*170+8insTTTACTCTACCAGAGCA	ENSP00000401081.1:n.*170+7_*170+8insTTTACTCTACCAGAGCA
ENST00000468294.5:n.225+7_225+8insTTTACTCTACCAGAGCA
ENST00000485261.1:n.248_249insTTTACTCTACCAGAGCA
ENST00000486738.5:n.416_417insTTTACTCTACCAGAGCA
ENST00000492448.1:n.248+7_248+8insTTTACTCTACCAGAGCA
ENST00000494443.5:n.329_330insTTTACTCTACCAGAGCA
NM_000117.2:c.265+7_265+8insTTTACTCTACCAGAGCA , LRG_745t1:c.265+7_265+8insTTTACTCTACCAGAGCA	NP_000108.1:n.265+7_265+8insTTTACTCTACCAGAGCA
XM_024452349.1:c.64_65insTTTACTCTACCAGAGCA	XP_024308117.1:p.Gln22LeufsTer?
NM_000117.3:c.265+7_265+8insTTTACTCTACCAGAGCA MANE Select	NP_000108.1:n.265+7_265+8insTTTACTCTACCAGAGCA