Canonical Allele Identifier: CA2544962698

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379691_154379692del , CM000685.2:g.154379691_154379692del	GRCh38
NC_000023.10:g.153608051_153608052del , CM000685.1:g.153608051_153608052del	GRCh37
NC_000023.9:g.153261245_153261246del	NCBI36
NG_008677.1:g.10256_10257del , LRG_745:g.10256_10257del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.84_85del	ENSP00000507245.1:p.Ser29AsnfsTer3
ENST00000682478.1:n.60_61del
ENST00000683576.1:n.60_61del
ENST00000683627.1:c.84_85del	ENSP00000507533.1:p.Ser29AsnfsTer3
ENST00000684082.1:c.84_85del	ENSP00000508266.1:p.Ser29AsnfsTer3
ENST00000684633.1:n.56_57del
ENST00000684678.1:c.80_81del	ENSP00000507059.1:p.Asp27AlafsTer?
ENST00000369842.9:c.84_85del MANE Select	ENSP00000358857.4:p.Ser29AsnfsTer3
ENST00000369835.3:c.82+125_82+126del	ENSP00000358850.3:n.82+125_82+126del
ENST00000369842.8:c.84_85del	ENSP00000358857.4:p.Ser29AsnfsTer3
ENST00000428228.5:c.55_56del	ENSP00000401081.1:p.Ile19GlnfsTer?
ENST00000468294.5:n.44_45del
ENST00000485261.1:n.163+125_163+126del
ENST00000486738.5:n.228_229del
ENST00000492448.1:n.67_68del
ENST00000494443.5:n.141_142del
NM_000117.2:c.84_85del , LRG_745t1:c.84_85del	NP_000108.1:p.Ser29AsnfsTer3
XM_024452349.1:c.-125_-124del	XP_024308117.1:n.-125_-124del
NM_000117.3:c.84_85del MANE Select	NP_000108.1:p.Ser29AsnfsTer3