Canonical Allele Identifier: CA2466664257

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380699_154380701delinsCAG , CM000685.2:g.154380699_154380701delinsCAG	GRCh38
NC_000023.10:g.153609059_153609061delinsCAG , CM000685.1:g.153609059_153609061delinsCAG	GRCh37
NC_000023.9:g.153262253_153262255delinsCAG	NCBI36
NG_008677.1:g.11264_11266delinsCAG , LRG_745:g.11264_11266delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.400-54_400-52delinsCAG	ENSP00000507245.1:n.400-54_400-52delinsCAG
ENST00000682478.1:n.590-54_590-52delinsCAG
ENST00000683576.1:n.590-54_590-52delinsCAG
ENST00000683627.1:c.400-54_400-52delinsCAG	ENSP00000507533.1:n.400-54_400-52delinsCAG
ENST00000684082.1:c.357-54_357-52delinsCAG	ENSP00000508266.1:n.357-54_357-52delinsCAG
ENST00000684633.1:n.372-54_372-52delinsCAG
ENST00000684678.1:c.396-54_396-52delinsCAG	ENSP00000507059.1:n.396-54_396-52delinsCAG
ENST00000369842.9:c.400-54_400-52delinsCAG MANE Select	ENSP00000358857.4:n.400-54_400-52delinsCAG
ENST00000369835.3:c.295-54_295-52delinsCAG	ENSP00000358850.3:n.295-54_295-52delinsCAG
ENST00000369842.8:c.400-54_400-52delinsCAG	ENSP00000358857.4:n.400-54_400-52delinsCAG
ENST00000428228.5:c.*305-54_*305-52delinsCAG	ENSP00000401081.1:n.*305-54_*305-52delinsCAG
ENST00000468294.5:n.360-54_360-52delinsCAG
ENST00000471965.1:n.135_137delinsCAG
ENST00000485261.1:n.590-54_590-52delinsCAG
ENST00000486738.5:n.758-54_758-52delinsCAG
ENST00000492448.1:n.383-54_383-52delinsCAG
NM_000117.2:c.400-54_400-52delinsCAG , LRG_745t1:c.400-54_400-52delinsCAG	NP_000108.1:n.400-54_400-52delinsCAG
XM_024452349.1:c.406-54_406-52delinsCAG	XP_024308117.1:n.406-54_406-52delinsCAG
NM_000117.3:c.400-54_400-52delinsCAG MANE Select	NP_000108.1:n.400-54_400-52delinsCAG