Canonical Allele Identifier: CA2528695580

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379700_154379703del , CM000685.2:g.154379700_154379703del	GRCh38
NC_000023.10:g.153608060_153608063del , CM000685.1:g.153608060_153608063del	GRCh37
NC_000023.9:g.153261254_153261257del	NCBI36
NG_008677.1:g.10265_10268del , LRG_745:g.10265_10268del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.93_96del	ENSP00000507245.1:p.Arg32PhefsTer?
ENST00000682478.1:n.69_72del
ENST00000683576.1:n.69_72del
ENST00000683627.1:c.93_96del	ENSP00000507533.1:p.Arg32PhefsTer?
ENST00000684082.1:c.93_96del	ENSP00000508266.1:p.Arg32PhefsTer?
ENST00000684633.1:n.65_68del
ENST00000684678.1:c.89_92del	ENSP00000507059.1:p.Val30AlafsTer28
ENST00000369842.9:c.93_96del MANE Select	ENSP00000358857.4:p.Arg32PhefsTer?
ENST00000369835.3:c.82+134_82+137del	ENSP00000358850.3:n.82+134_82+137del
ENST00000369842.8:c.93_96del	ENSP00000358857.4:p.Arg32PhefsTer?
ENST00000428228.5:c.64_*1del	ENSP00000401081.1:n.[c.64_*1del;Ter22Leue...
ENST00000468294.5:n.53_56del
ENST00000485261.1:n.163+134_163+137del
ENST00000486738.5:n.237_240del
ENST00000492448.1:n.76_79del
ENST00000494443.5:n.150_153del
NM_000117.2:c.93_96del , LRG_745t1:c.93_96del	NP_000108.1:p.Arg32PhefsTer?
XM_024452349.1:c.-116_-113del	XP_024308117.1:n.-116_-113del
NM_000117.3:c.93_96del MANE Select	NP_000108.1:p.Arg32PhefsTer?