Canonical Allele Identifier: CA2695115103

Gene: EMD

Linked Data

• gnomAD v4: X-154379826-ACG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379829_154379830del , CM000685.2:g.154379829_154379830del	GRCh38
NC_000023.10:g.153608189_153608190del , CM000685.1:g.153608189_153608190del	GRCh37
NC_000023.9:g.153261383_153261384del	NCBI36
NG_008677.1:g.10394_10395del , LRG_745:g.10394_10395del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.187+35_187+36del	ENSP00000507245.1:n.187+35_187+36del
ENST00000682478.1:n.163+35_163+36del
ENST00000683576.1:n.163+35_163+36del
ENST00000683627.1:c.187+35_187+36del	ENSP00000507533.1:n.187+35_187+36del
ENST00000684082.1:c.187+35_187+36del	ENSP00000508266.1:n.187+35_187+36del
ENST00000684633.1:n.159+35_159+36del
ENST00000684678.1:c.183+35_183+36del	ENSP00000507059.1:n.183+35_183+36del
ENST00000369842.9:c.187+35_187+36del MANE Select	ENSP00000358857.4:n.187+35_187+36del
ENST00000369835.3:c.83-113_83-112del	ENSP00000358850.3:n.83-113_83-112del
ENST00000369842.8:c.187+35_187+36del	ENSP00000358857.4:n.187+35_187+36del
ENST00000428228.5:c.*92+35_*92+36del	ENSP00000401081.1:n.*92+35_*92+36del
ENST00000468294.5:n.147+35_147+36del
ENST00000485261.1:n.164-113_164-112del
ENST00000486738.5:n.331+35_331+36del
ENST00000492448.1:n.170+35_170+36del
ENST00000494443.5:n.244+35_244+36del
NM_000117.2:c.187+35_187+36del , LRG_745t1:c.187+35_187+36del	NP_000108.1:n.187+35_187+36del
XM_024452349.1:c.-22+35_-22+36del	XP_024308117.1:n.-22+35_-22+36del
NM_000117.3:c.187+35_187+36del MANE Select	NP_000108.1:n.187+35_187+36del