Canonical Allele Identifier: CA2695237002

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379781_154379782del , CM000685.2:g.154379781_154379782del	GRCh38
NC_000023.10:g.153608141_153608142del , CM000685.1:g.153608141_153608142del	GRCh37
NC_000023.9:g.153261335_153261336del	NCBI36
NG_008677.1:g.10346_10347del , LRG_745:g.10346_10347del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.174_175del	ENSP00000507245.1:p.Tyr59Ter
ENST00000682478.1:n.150_151del
ENST00000683576.1:n.150_151del
ENST00000683627.1:c.174_175del	ENSP00000507533.1:p.Tyr59Ter
ENST00000684082.1:c.174_175del	ENSP00000508266.1:p.Tyr59Ter
ENST00000684633.1:n.146_147del
ENST00000684678.1:c.170_171del	ENSP00000507059.1:p.Leu57HisfsTer?
ENST00000369842.9:c.174_175del MANE Select	ENSP00000358857.4:p.Tyr59Ter
ENST00000369835.3:c.83-161_83-160del	ENSP00000358850.3:n.83-161_83-160del
ENST00000369842.8:c.174_175del	ENSP00000358857.4:p.Tyr59Ter
ENST00000428228.5:c.*79_*80del	ENSP00000401081.1:n.*79_*80del
ENST00000468294.5:n.134_135del
ENST00000485261.1:n.164-161_164-160del
ENST00000486738.5:n.318_319del
ENST00000492448.1:n.157_158del
ENST00000494443.5:n.231_232del
NM_000117.2:c.174_175del , LRG_745t1:c.174_175del	NP_000108.1:p.Tyr59Ter
XM_024452349.1:c.-35_-34del	XP_024308117.1:n.-35_-34del
NM_000117.3:c.174_175del MANE Select	NP_000108.1:p.Tyr59Ter