Canonical Allele Identifier: CA2695237020

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380893_154380906delinsG , CM000685.2:g.154380893_154380906delinsG	GRCh38
NC_000023.10:g.153609253_153609266delinsG , CM000685.1:g.153609253_153609266delinsG	GRCh37
NC_000023.9:g.153262447_153262460delinsG	NCBI36
NG_008677.1:g.11458_11471delinsG , LRG_745:g.11458_11471delinsG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.461_474delinsG	ENSP00000507245.1:p.Met154ArgfsTer?
ENST00000682478.1:n.651_664delinsG
ENST00000683576.1:n.651_664delinsG
ENST00000683627.1:c.461_474delinsG	ENSP00000507533.1:p.Met154ArgfsTer?
ENST00000684082.1:c.418_431delinsG	ENSP00000508266.1:n.418_431delinsG
ENST00000684633.1:n.433_446delinsG
ENST00000684678.1:c.457_470delinsG	ENSP00000507059.1:n.457_470delinsG
ENST00000369842.9:c.461_474delinsG MANE Select	ENSP00000358857.4:p.Met154ArgfsTer?
ENST00000369835.3:c.356_369delinsG	ENSP00000358850.3:p.Met119ArgfsTer?
ENST00000369842.8:c.461_474delinsG	ENSP00000358857.4:p.Met154ArgfsTer?
ENST00000428228.5:c.*366_*379delinsG	ENSP00000401081.1:n.*366_*379delinsG
ENST00000471965.1:n.250_263delinsG
ENST00000485261.1:n.730_743delinsG
ENST00000486738.5:n.898_911delinsG
ENST00000492448.1:n.444_457delinsG
NM_000117.2:c.461_474delinsG , LRG_745t1:c.461_474delinsG	NP_000108.1:p.Met154ArgfsTer?
XM_024452349.1:c.467_480delinsG	XP_024308117.1:p.Met156ArgfsTer?
NM_000117.3:c.461_474delinsG MANE Select	NP_000108.1:p.Met154ArgfsTer?