Canonical Allele Identifier: CA2580612323

Gene: EMD

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154381082_154381086del , CM000685.2:g.154381082_154381086del	GRCh38
NC_000023.10:g.153609442_153609446del , CM000685.1:g.153609442_153609446del	GRCh37
NC_000023.9:g.153262636_153262640del	NCBI36
NG_008677.1:g.11647_11651del , LRG_745:g.11647_11651del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.572+78_572+82del	ENSP00000507245.1:n.572+78_572+82del
ENST00000682478.1:n.762+78_762+82del
ENST00000683576.1:n.840_844del
ENST00000683627.1:c.650_654del	ENSP00000507533.1:p.Leu217ProfsTer?
ENST00000684082.1:c.607_611del	ENSP00000508266.1:n.607_611del
ENST00000684633.1:n.622_626del
ENST00000684678.1:c.568+78_568+82del	ENSP00000507059.1:n.568+78_568+82del
ENST00000369842.9:c.650_654del MANE Select	ENSP00000358857.4:p.Leu217ProfsTer?
ENST00000369835.3:c.545_549del	ENSP00000358850.3:p.Leu182ProfsTer?
ENST00000369842.8:c.650_654del	ENSP00000358857.4:p.Leu217ProfsTer?
ENST00000428228.5:c.*555_*559del	ENSP00000401081.1:n.*555_*559del
ENST00000471965.1:n.439_443del
ENST00000486738.5:n.1087_1091del
ENST00000492448.1:n.633_637del
NM_000117.2:c.650_654del , LRG_745t1:c.650_654del	NP_000108.1:p.Leu217ProfsTer?
XM_024452349.1:c.656_660del	XP_024308117.1:p.Leu219ProfsTer?
NM_000117.3:c.650_654del MANE Select	NP_000108.1:p.Leu217ProfsTer?