Canonical Allele Identifier: CA2695115210

Gene: EMD

Linked Data

• gnomAD v4: X-154380460-GTGGCTCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380464_154380470del , CM000685.2:g.154380464_154380470del	GRCh38
NC_000023.10:g.153608824_153608830del , CM000685.1:g.153608824_153608830del	GRCh37
NC_000023.9:g.153262018_153262024del	NCBI36
NG_008677.1:g.11029_11035del , LRG_745:g.11029_11035del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.399+97_399+103del	ENSP00000507245.1:n.399+97_399+103del
ENST00000682478.1:n.589+97_589+103del
ENST00000683576.1:n.589+97_589+103del
ENST00000683627.1:c.399+97_399+103del	ENSP00000507533.1:n.399+97_399+103del
ENST00000684082.1:c.356+97_356+103del	ENSP00000508266.1:n.356+97_356+103del
ENST00000684633.1:n.371+97_371+103del
ENST00000684678.1:c.395+97_395+103del	ENSP00000507059.1:n.395+97_395+103del
ENST00000369842.9:c.399+97_399+103del MANE Select	ENSP00000358857.4:n.399+97_399+103del
ENST00000369835.3:c.294+97_294+103del	ENSP00000358850.3:n.294+97_294+103del
ENST00000369842.8:c.399+97_399+103del	ENSP00000358857.4:n.399+97_399+103del
ENST00000428228.5:c.*304+97_*304+103del	ENSP00000401081.1:n.*304+97_*304+103del
ENST00000468294.5:n.359+97_359+103del
ENST00000485261.1:n.589+97_589+103del
ENST00000486738.5:n.757+97_757+103del
ENST00000492448.1:n.382+97_382+103del
NM_000117.2:c.399+97_399+103del , LRG_745t1:c.399+97_399+103del	NP_000108.1:n.399+97_399+103del
XM_024452349.1:c.405+97_405+103del	XP_024308117.1:n.405+97_405+103del
NM_000117.3:c.399+97_399+103del MANE Select	NP_000108.1:n.399+97_399+103del