Canonical Allele Identifier: CA2466664264

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380716_154380725delinsTGCCAGCCAG , CM000685.2:g.154380716_154380725delinsTGCCAGCCAG	GRCh38
NC_000023.10:g.153609076_153609085delinsTGCCAGCCAG , CM000685.1:g.153609076_153609085delinsTGCCAGCCAG	GRCh37
NC_000023.9:g.153262270_153262279delinsTGCCAGCCAG	NCBI36
NG_008677.1:g.11281_11290delinsTGCCAGCCAG , LRG_745:g.11281_11290delinsTGCCAGCCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.400-37_400-28delinsTGCCAGCCAG	ENSP00000507245.1:n.400-37_400-28delinsTGCCAGCCAG
ENST00000682478.1:n.590-37_590-28delinsTGCCAGCCAG
ENST00000683576.1:n.590-37_590-28delinsTGCCAGCCAG
ENST00000683627.1:c.400-37_400-28delinsTGCCAGCCAG	ENSP00000507533.1:n.400-37_400-28delinsTGCCAGCCAG
ENST00000684082.1:c.357-37_357-28delinsTGCCAGCCAG	ENSP00000508266.1:n.357-37_357-28delinsTGCCAGCCAG
ENST00000684633.1:n.372-37_372-28delinsTGCCAGCCAG
ENST00000684678.1:c.396-37_396-28delinsTGCCAGCCAG	ENSP00000507059.1:n.396-37_396-28delinsTGCCAGCCAG
ENST00000369842.9:c.400-37_400-28delinsTGCCAGCCAG MANE Select	ENSP00000358857.4:n.400-37_400-28delinsTGCCAGCCAG
ENST00000369835.3:c.295-37_295-28delinsTGCCAGCCAG	ENSP00000358850.3:n.295-37_295-28delinsTGCCAGCCAG
ENST00000369842.8:c.400-37_400-28delinsTGCCAGCCAG	ENSP00000358857.4:n.400-37_400-28delinsTGCCAGCCAG
ENST00000428228.5:c.*305-37_*305-28delinsTGCCAGCCAG	ENSP00000401081.1:n.*305-37_*305-28delinsTGCCAGCCAG
ENST00000468294.5:n.360-37_360-28delinsTGCCAGCCAG
ENST00000471965.1:n.152_161delinsTGCCAGCCAG
ENST00000485261.1:n.590-37_590-28delinsTGCCAGCCAG
ENST00000486738.5:n.758-37_758-28delinsTGCCAGCCAG
ENST00000492448.1:n.383-37_383-28delinsTGCCAGCCAG
NM_000117.2:c.400-37_400-28delinsTGCCAGCCAG , LRG_745t1:c.400-37_400-28delinsTGCCAGCCAG	NP_000108.1:n.400-37_400-28delinsTGCCAGCCAG
XM_024452349.1:c.406-37_406-28delinsTGCCAGCCAG	XP_024308117.1:n.406-37_406-28delinsTGCCAGCCAG
NM_000117.3:c.400-37_400-28delinsTGCCAGCCAG MANE Select	NP_000108.1:n.400-37_400-28delinsTGCCAGCCAG