Canonical Allele Identifier: CA2695115228

Gene: EMD

Linked Data

• gnomAD v4: X-154380497-G-GGGTGCTCT

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380497_154380498insGGTGCTCT , CM000685.2:g.154380497_154380498insGGTGCTCT	GRCh38
NC_000023.10:g.153608857_153608858insGGTGCTCT , CM000685.1:g.153608857_153608858insGGTGCTCT	GRCh37
NC_000023.9:g.153262051_153262052insGGTGCTCT	NCBI36
NG_008677.1:g.11062_11063insGGTGCTCT , LRG_745:g.11062_11063insGGTGCTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.399+130_399+131insGGTGCTCT	ENSP00000507245.1:n.399+130_399+131insGGTGCTCT
ENST00000682478.1:n.589+130_589+131insGGTGCTCT
ENST00000683576.1:n.589+130_589+131insGGTGCTCT
ENST00000683627.1:c.399+130_399+131insGGTGCTCT	ENSP00000507533.1:n.399+130_399+131insGGTGCTCT
ENST00000684082.1:c.356+130_356+131insGGTGCTCT	ENSP00000508266.1:n.356+130_356+131insGGTGCTCT
ENST00000684633.1:n.371+130_371+131insGGTGCTCT
ENST00000684678.1:c.395+130_395+131insGGTGCTCT	ENSP00000507059.1:n.395+130_395+131insGGTGCTCT
ENST00000369842.9:c.399+130_399+131insGGTGCTCT MANE Select	ENSP00000358857.4:n.399+130_399+131insGGTGCTCT
ENST00000369835.3:c.294+130_294+131insGGTGCTCT	ENSP00000358850.3:n.294+130_294+131insGGTGCTCT
ENST00000369842.8:c.399+130_399+131insGGTGCTCT	ENSP00000358857.4:n.399+130_399+131insGGTGCTCT
ENST00000428228.5:c.*304+130_*304+131insGGTGCTCT	ENSP00000401081.1:n.*304+130_*304+131insGGTGCTCT
ENST00000468294.5:n.359+130_359+131insGGTGCTCT
ENST00000485261.1:n.589+130_589+131insGGTGCTCT
ENST00000486738.5:n.757+130_757+131insGGTGCTCT
ENST00000492448.1:n.382+130_382+131insGGTGCTCT
NM_000117.2:c.399+130_399+131insGGTGCTCT , LRG_745t1:c.399+130_399+131insGGTGCTCT	NP_000108.1:n.399+130_399+131insGGTGCTCT
XM_024452349.1:c.405+130_405+131insGGTGCTCT	XP_024308117.1:n.405+130_405+131insGGTGCTCT
NM_000117.3:c.399+130_399+131insGGTGCTCT MANE Select	NP_000108.1:n.399+130_399+131insGGTGCTCT