Canonical Allele Identifier: CA2526779145

Gene: EMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379706_154379707insCC , CM000685.2:g.154379706_154379707insCC	GRCh38
NC_000023.10:g.153608066_153608067insCC , CM000685.1:g.153608066_153608067insCC	GRCh37
NC_000023.9:g.153261260_153261261insCC	NCBI36
NG_008677.1:g.10271_10272insCC , LRG_745:g.10271_10272insCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.99_100insCC	ENSP00000507245.1:p.Tyr34ProfsTer?
ENST00000682478.1:n.75_76insCC
ENST00000683576.1:n.75_76insCC
ENST00000683627.1:c.99_100insCC	ENSP00000507533.1:p.Tyr34ProfsTer?
ENST00000684082.1:c.99_100insCC	ENSP00000508266.1:p.Tyr34ProfsTer?
ENST00000684633.1:n.71_72insCC
ENST00000684678.1:c.95_96insCC	ENSP00000507059.1:p.Thr33LeufsTer27
ENST00000369842.9:c.99_100insCC MANE Select	ENSP00000358857.4:p.Tyr34ProfsTer?
ENST00000369835.3:c.82+140_82+141insCC	ENSP00000358850.3:n.82+140_82+141insCC
ENST00000369842.8:c.99_100insCC	ENSP00000358857.4:p.Tyr34ProfsTer?
ENST00000428228.5:c.*4_*5insCC	ENSP00000401081.1:n.*4_*5insCC
ENST00000468294.5:n.59_60insCC
ENST00000485261.1:n.163+140_163+141insCC
ENST00000486738.5:n.243_244insCC
ENST00000492448.1:n.82_83insCC
ENST00000494443.5:n.156_157insCC
NM_000117.2:c.99_100insCC , LRG_745t1:c.99_100insCC	NP_000108.1:p.Tyr34ProfsTer?
XM_024452349.1:c.-110_-109insCC	XP_024308117.1:n.-110_-109insCC
NM_000117.3:c.99_100insCC MANE Select	NP_000108.1:p.Tyr34ProfsTer?