Canonical Allele Identifier: CA2695115099

Gene: EMD

Linked Data

• gnomAD v4: X-154379812-GGGGACAGCCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379818_154379827del , CM000685.2:g.154379818_154379827del	GRCh38
NC_000023.10:g.153608178_153608187del , CM000685.1:g.153608178_153608187del	GRCh37
NC_000023.9:g.153261372_153261381del	NCBI36
NG_008677.1:g.10383_10392del , LRG_745:g.10383_10392del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.187+24_187+33del	ENSP00000507245.1:n.187+24_187+33del
ENST00000682478.1:n.163+24_163+33del
ENST00000683576.1:n.163+24_163+33del
ENST00000683627.1:c.187+24_187+33del	ENSP00000507533.1:n.187+24_187+33del
ENST00000684082.1:c.187+24_187+33del	ENSP00000508266.1:n.187+24_187+33del
ENST00000684633.1:n.159+24_159+33del
ENST00000684678.1:c.183+24_183+33del	ENSP00000507059.1:n.183+24_183+33del
ENST00000369842.9:c.187+24_187+33del MANE Select	ENSP00000358857.4:n.187+24_187+33del
ENST00000369835.3:c.83-124_83-115del	ENSP00000358850.3:n.83-124_83-115del
ENST00000369842.8:c.187+24_187+33del	ENSP00000358857.4:n.187+24_187+33del
ENST00000428228.5:c.*92+24_*92+33del	ENSP00000401081.1:n.*92+24_*92+33del
ENST00000468294.5:n.147+24_147+33del
ENST00000485261.1:n.164-124_164-115del
ENST00000486738.5:n.331+24_331+33del
ENST00000492448.1:n.170+24_170+33del
ENST00000494443.5:n.244+24_244+33del
NM_000117.2:c.187+24_187+33del , LRG_745t1:c.187+24_187+33del	NP_000108.1:n.187+24_187+33del
XM_024452349.1:c.-22+24_-22+33del	XP_024308117.1:n.-22+24_-22+33del
NM_000117.3:c.187+24_187+33del MANE Select	NP_000108.1:n.187+24_187+33del