Canonical Allele Identifier: CA2695237017

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380771_154380772del , CM000685.2:g.154380771_154380772del	GRCh38
NC_000023.10:g.153609131_153609132del , CM000685.1:g.153609131_153609132del	GRCh37
NC_000023.9:g.153262325_153262326del	NCBI36
NG_008677.1:g.11336_11337del , LRG_745:g.11336_11337del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.418_419del	ENSP00000507245.1:p.Leu140ValfsTer4
ENST00000682478.1:n.608_609del
ENST00000683576.1:n.608_609del
ENST00000683627.1:c.418_419del	ENSP00000507533.1:p.Leu140ValfsTer4
ENST00000684082.1:c.375_376del	ENSP00000508266.1:n.375_376del
ENST00000684633.1:n.390_391del
ENST00000684678.1:c.414_415del	ENSP00000507059.1:n.414_415del
ENST00000369842.9:c.418_419del MANE Select	ENSP00000358857.4:p.Leu140ValfsTer4
ENST00000369835.3:c.313_314del	ENSP00000358850.3:p.Leu105ValfsTer4
ENST00000369842.8:c.418_419del	ENSP00000358857.4:p.Leu140ValfsTer4
ENST00000428228.5:c.*323_*324del	ENSP00000401081.1:n.*323_*324del
ENST00000468294.5:n.378_379del
ENST00000471965.1:n.207_208del
ENST00000485261.1:n.608_609del
ENST00000486738.5:n.776_777del
ENST00000492448.1:n.401_402del
NM_000117.2:c.418_419del , LRG_745t1:c.418_419del	NP_000108.1:p.Leu140ValfsTer4
XM_024452349.1:c.424_425del	XP_024308117.1:p.Leu142ValfsTer4
NM_000117.3:c.418_419del MANE Select	NP_000108.1:p.Leu140ValfsTer4