Canonical Allele Identifier: CA2466664262

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380712_154380713delinsGC , CM000685.2:g.154380712_154380713delinsGC	GRCh38
NC_000023.10:g.153609072_153609073delinsGC , CM000685.1:g.153609072_153609073delinsGC	GRCh37
NC_000023.9:g.153262266_153262267delinsGC	NCBI36
NG_008677.1:g.11277_11278delinsGC , LRG_745:g.11277_11278delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.400-41_400-40delinsGC	ENSP00000507245.1:n.400-41_400-40delinsGC
ENST00000682478.1:n.590-41_590-40delinsGC
ENST00000683576.1:n.590-41_590-40delinsGC
ENST00000683627.1:c.400-41_400-40delinsGC	ENSP00000507533.1:n.400-41_400-40delinsGC
ENST00000684082.1:c.357-41_357-40delinsGC	ENSP00000508266.1:n.357-41_357-40delinsGC
ENST00000684633.1:n.372-41_372-40delinsGC
ENST00000684678.1:c.396-41_396-40delinsGC	ENSP00000507059.1:n.396-41_396-40delinsGC
ENST00000369842.9:c.400-41_400-40delinsGC MANE Select	ENSP00000358857.4:n.400-41_400-40delinsGC
ENST00000369835.3:c.295-41_295-40delinsGC	ENSP00000358850.3:n.295-41_295-40delinsGC
ENST00000369842.8:c.400-41_400-40delinsGC	ENSP00000358857.4:n.400-41_400-40delinsGC
ENST00000428228.5:c.*305-41_*305-40delinsGC	ENSP00000401081.1:n.*305-41_*305-40delinsGC
ENST00000468294.5:n.360-41_360-40delinsGC
ENST00000471965.1:n.148_149delinsGC
ENST00000485261.1:n.590-41_590-40delinsGC
ENST00000486738.5:n.758-41_758-40delinsGC
ENST00000492448.1:n.383-41_383-40delinsGC
NM_000117.2:c.400-41_400-40delinsGC , LRG_745t1:c.400-41_400-40delinsGC	NP_000108.1:n.400-41_400-40delinsGC
XM_024452349.1:c.406-41_406-40delinsGC	XP_024308117.1:n.406-41_406-40delinsGC
NM_000117.3:c.400-41_400-40delinsGC MANE Select	NP_000108.1:n.400-41_400-40delinsGC