Canonical Allele Identifier: CA10603419

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379544del , CM000685.2:g.154379544del	GRCh38
NC_000023.10:g.153607904del , CM000685.1:g.153607904del	GRCh37
NC_000023.9:g.153261098del	NCBI36
NG_008677.1:g.10109del , LRG_745:g.10109del
NG_011506.1:g.103del
NG_011506.2:g.95del

Transcript Alleles

HGVS	Amino-acid Change
NM_000117.3:c.60del MANE Select	NP_000108.1:p.Asn20LysfsTer7
ENST00000369842.9:c.60del MANE Select	ENSP00000358857.4:p.Asn20LysfsTer7
NM_000117.2:c.60del , LRG_745t1:c.60del	NP_000108.1:p.Asn20LysfsTer7
ENST00000369835.3:c.60del	ENSP00000358850.3:p.Asn20LysfsTer7
ENST00000369842.8:c.60del	ENSP00000358857.4:p.Asn20LysfsTer7
ENST00000428228.5:c.53+7del	ENSP00000401081.1:n.53+7del
ENST00000468294.5:n.20del
ENST00000485261.1:n.141del
ENST00000486738.5:n.204del
ENST00000494443.5:n.117del
ENST00000682114.1:c.60del	ENSP00000507245.1:p.Asn20LysfsTer7
ENST00000682478.1:n.36del
ENST00000683576.1:n.36del
ENST00000683627.1:c.60del	ENSP00000507533.1:p.Asn20LysfsTer7
ENST00000684082.1:c.60del	ENSP00000508266.1:p.Asn20LysfsTer7
ENST00000684633.1:n.36del
ENST00000684678.1:c.60del	ENSP00000507059.1:p.Asn20LysfsTer7
XM_024452349.1:c.-149del	XP_024308117.1:n.-149del