Canonical Allele Identifier: CA1138576465

Gene: EMD

Linked Data

• dbSNP Id: rs2067881194
• gnomAD v3: X-154380529-C-CAGG
• gnomAD v4: X-154380529-C-CAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380529_154380530insAGG , CM000685.2:g.154380529_154380530insAGG	GRCh38
NC_000023.10:g.153608889_153608890insAGG , CM000685.1:g.153608889_153608890insAGG	GRCh37
NC_000023.9:g.153262083_153262084insAGG	NCBI36
NG_008677.1:g.11094_11095insAGG , LRG_745:g.11094_11095insAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.399+162_399+163insAGG	ENSP00000507245.1:n.399+162_399+163insAGG
ENST00000682478.1:n.589+162_589+163insAGG
ENST00000683576.1:n.589+162_589+163insAGG
ENST00000683627.1:c.399+162_399+163insAGG	ENSP00000507533.1:n.399+162_399+163insAGG
ENST00000684082.1:c.356+162_356+163insAGG	ENSP00000508266.1:n.356+162_356+163insAGG
ENST00000684633.1:n.371+162_371+163insAGG
ENST00000684678.1:c.395+162_395+163insAGG	ENSP00000507059.1:n.395+162_395+163insAGG
ENST00000369842.9:c.399+162_399+163insAGG MANE Select	ENSP00000358857.4:n.399+162_399+163insAGG
ENST00000369835.3:c.294+162_294+163insAGG	ENSP00000358850.3:n.294+162_294+163insAGG
ENST00000369842.8:c.399+162_399+163insAGG	ENSP00000358857.4:n.399+162_399+163insAGG
ENST00000428228.5:c.*304+162_*304+163insAGG	ENSP00000401081.1:n.*304+162_*304+163insAGG
ENST00000468294.5:n.359+162_359+163insAGG
ENST00000485261.1:n.589+162_589+163insAGG
ENST00000486738.5:n.757+162_757+163insAGG
ENST00000492448.1:n.382+162_382+163insAGG
NM_000117.2:c.399+162_399+163insAGG , LRG_745t1:c.399+162_399+163insAGG	NP_000108.1:n.399+162_399+163insAGG
XM_024452349.1:c.405+162_405+163insAGG	XP_024308117.1:n.405+162_405+163insAGG
NM_000117.3:c.399+162_399+163insAGG MANE Select	NP_000108.1:n.399+162_399+163insAGG