Canonical Allele Identifier: CA1138576528

Gene: EMD

Linked Data

• dbSNP Id: rs2067881994
• gnomAD v3: X-154380699-CAG-C
• gnomAD v4: X-154380699-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380700_154380701del , CM000685.2:g.154380700_154380701del	GRCh38
NC_000023.10:g.153609060_153609061del , CM000685.1:g.153609060_153609061del	GRCh37
NC_000023.9:g.153262254_153262255del	NCBI36
NG_008677.1:g.11265_11266del , LRG_745:g.11265_11266del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.400-53_400-52del	ENSP00000507245.1:n.400-53_400-52del
ENST00000682478.1:n.590-53_590-52del
ENST00000683576.1:n.590-53_590-52del
ENST00000683627.1:c.400-53_400-52del	ENSP00000507533.1:n.400-53_400-52del
ENST00000684082.1:c.357-53_357-52del	ENSP00000508266.1:n.357-53_357-52del
ENST00000684633.1:n.372-53_372-52del
ENST00000684678.1:c.396-53_396-52del	ENSP00000507059.1:n.396-53_396-52del
ENST00000369842.9:c.400-53_400-52del MANE Select	ENSP00000358857.4:n.400-53_400-52del
ENST00000369835.3:c.295-53_295-52del	ENSP00000358850.3:n.295-53_295-52del
ENST00000369842.8:c.400-53_400-52del	ENSP00000358857.4:n.400-53_400-52del
ENST00000428228.5:c.*305-53_*305-52del	ENSP00000401081.1:n.*305-53_*305-52del
ENST00000468294.5:n.360-53_360-52del
ENST00000471965.1:n.136_137del
ENST00000485261.1:n.590-53_590-52del
ENST00000486738.5:n.758-53_758-52del
ENST00000492448.1:n.383-53_383-52del
NM_000117.2:c.400-53_400-52del , LRG_745t1:c.400-53_400-52del	NP_000108.1:n.400-53_400-52del
XM_024452349.1:c.406-53_406-52del	XP_024308117.1:n.406-53_406-52del
NM_000117.3:c.400-53_400-52del MANE Select	NP_000108.1:n.400-53_400-52del