Canonical Allele Identifier: CA2695115095

Gene: EMD

Linked Data

• gnomAD v4: X-154379796-TGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379800_154379801del , CM000685.2:g.154379800_154379801del	GRCh38
NC_000023.10:g.153608160_153608161del , CM000685.1:g.153608160_153608161del	GRCh37
NC_000023.9:g.153261354_153261355del	NCBI36
NG_008677.1:g.10365_10366del , LRG_745:g.10365_10366del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.187+6_187+7del	ENSP00000507245.1:n.187+6_187+7del
ENST00000682478.1:n.163+6_163+7del
ENST00000683576.1:n.163+6_163+7del
ENST00000683627.1:c.187+6_187+7del	ENSP00000507533.1:n.187+6_187+7del
ENST00000684082.1:c.187+6_187+7del	ENSP00000508266.1:n.187+6_187+7del
ENST00000684633.1:n.159+6_159+7del
ENST00000684678.1:c.183+6_183+7del	ENSP00000507059.1:n.183+6_183+7del
ENST00000369842.9:c.187+6_187+7del MANE Select	ENSP00000358857.4:n.187+6_187+7del
ENST00000369835.3:c.83-142_83-141del	ENSP00000358850.3:n.83-142_83-141del
ENST00000369842.8:c.187+6_187+7del	ENSP00000358857.4:n.187+6_187+7del
ENST00000428228.5:c.*92+6_*92+7del	ENSP00000401081.1:n.*92+6_*92+7del
ENST00000468294.5:n.147+6_147+7del
ENST00000485261.1:n.164-142_164-141del
ENST00000486738.5:n.331+6_331+7del
ENST00000492448.1:n.170+6_170+7del
ENST00000494443.5:n.244+6_244+7del
NM_000117.2:c.187+6_187+7del , LRG_745t1:c.187+6_187+7del	NP_000108.1:n.187+6_187+7del
XM_024452349.1:c.-22+6_-22+7del	XP_024308117.1:n.-22+6_-22+7del
NM_000117.3:c.187+6_187+7del MANE Select	NP_000108.1:n.187+6_187+7del