Canonical Allele Identifier: CA2466664399

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380976_154380979delinsTATC , CM000685.2:g.154380976_154380979delinsTATC	GRCh38
NC_000023.10:g.153609336_153609339delinsTATC , CM000685.1:g.153609336_153609339delinsTATC	GRCh37
NC_000023.9:g.153262530_153262533delinsTATC	NCBI36
NG_008677.1:g.11541_11544delinsTATC , LRG_745:g.11541_11544delinsTATC

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.544_547delinsTATC	ENSP00000507245.1:p.Tyr182=
ENST00000682478.1:n.734_737delinsTATC
ENST00000683576.1:n.734_737delinsTATC
ENST00000683627.1:c.544_547delinsTATC	ENSP00000507533.1:p.Tyr182=
ENST00000684082.1:c.501_504delinsTATC	ENSP00000508266.1:n.501_504delinsTATC
ENST00000684633.1:n.516_519delinsTATC
ENST00000684678.1:c.540_543delinsTATC	ENSP00000507059.1:n.540_543delinsTATC
ENST00000369842.9:c.544_547delinsTATC MANE Select	ENSP00000358857.4:p.Tyr182=
ENST00000369835.3:c.439_442delinsTATC	ENSP00000358850.3:p.Tyr147=
ENST00000369842.8:c.544_547delinsTATC	ENSP00000358857.4:p.Tyr182=
ENST00000428228.5:c.*449_*452delinsTATC	ENSP00000401081.1:n.*449_*452delinsTATC
ENST00000471965.1:n.333_336delinsTATC
ENST00000486738.5:n.981_984delinsTATC
ENST00000492448.1:n.527_530delinsTATC
NM_000117.2:c.544_547delinsTATC , LRG_745t1:c.544_547delinsTATC	NP_000108.1:p.Tyr182=
XM_024452349.1:c.550_553delinsTATC	XP_024308117.1:p.Tyr184=
NM_000117.3:c.544_547delinsTATC MANE Select	NP_000108.1:p.Tyr182=