Canonical Allele Identifier: CA2466664282

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380739_154380741delinsACT , CM000685.2:g.154380739_154380741delinsACT	GRCh38
NC_000023.10:g.153609099_153609101delinsACT , CM000685.1:g.153609099_153609101delinsACT	GRCh37
NC_000023.9:g.153262293_153262295delinsACT	NCBI36
NG_008677.1:g.11304_11306delinsACT , LRG_745:g.11304_11306delinsACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.400-14_400-12delinsACT	ENSP00000507245.1:n.400-14_400-12delinsACT
ENST00000682478.1:n.590-14_590-12delinsACT
ENST00000683576.1:n.590-14_590-12delinsACT
ENST00000683627.1:c.400-14_400-12delinsACT	ENSP00000507533.1:n.400-14_400-12delinsACT
ENST00000684082.1:c.357-14_357-12delinsACT	ENSP00000508266.1:n.357-14_357-12delinsACT
ENST00000684633.1:n.372-14_372-12delinsACT
ENST00000684678.1:c.396-14_396-12delinsACT	ENSP00000507059.1:n.396-14_396-12delinsACT
ENST00000369842.9:c.400-14_400-12delinsACT MANE Select	ENSP00000358857.4:n.400-14_400-12delinsACT
ENST00000369835.3:c.295-14_295-12delinsACT	ENSP00000358850.3:n.295-14_295-12delinsACT
ENST00000369842.8:c.400-14_400-12delinsACT	ENSP00000358857.4:n.400-14_400-12delinsACT
ENST00000428228.5:c.*305-14_*305-12delinsACT	ENSP00000401081.1:n.*305-14_*305-12delinsACT
ENST00000468294.5:n.360-14_360-12delinsACT
ENST00000471965.1:n.175_177delinsACT
ENST00000485261.1:n.590-14_590-12delinsACT
ENST00000486738.5:n.758-14_758-12delinsACT
ENST00000492448.1:n.383-14_383-12delinsACT
NM_000117.2:c.400-14_400-12delinsACT , LRG_745t1:c.400-14_400-12delinsACT	NP_000108.1:n.400-14_400-12delinsACT
XM_024452349.1:c.406-14_406-12delinsACT	XP_024308117.1:n.406-14_406-12delinsACT
NM_000117.3:c.400-14_400-12delinsACT MANE Select	NP_000108.1:n.400-14_400-12delinsACT