Canonical Allele Identifier: CA2695115045

Gene: EMD

Linked Data

• gnomAD v4: X-154379581-G-GCGGGACCCCTTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379586_154379597dup , CM000685.2:g.154379586_154379597dup	GRCh38
NC_000023.10:g.153607946_153607957dup , CM000685.1:g.153607946_153607957dup	GRCh37
NC_000023.9:g.153261140_153261151dup	NCBI36
NG_008677.1:g.10151_10162dup , LRG_745:g.10151_10162dup
NG_011506.1:g.54_65dup
NG_011506.2:g.46_57dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.82+20_82+31dup	ENSP00000507245.1:n.82+20_82+31dup
ENST00000682478.1:n.58+20_58+31dup
ENST00000683576.1:n.58+20_58+31dup
ENST00000683627.1:c.82+20_82+31dup	ENSP00000507533.1:n.82+20_82+31dup
ENST00000684082.1:c.82+20_82+31dup	ENSP00000508266.1:n.82+20_82+31dup
ENST00000684633.1:n.54+24_54+35dup
ENST00000684678.1:c.78+24_78+35dup	ENSP00000507059.1:n.78+24_78+35dup
ENST00000369842.9:c.82+20_82+31dup MANE Select	ENSP00000358857.4:n.82+20_82+31dup
ENST00000369835.3:c.82+20_82+31dup	ENSP00000358850.3:n.82+20_82+31dup
ENST00000369842.8:c.82+20_82+31dup	ENSP00000358857.4:n.82+20_82+31dup
ENST00000428228.5:c.53+49_53+60dup	ENSP00000401081.1:n.53+49_53+60dup
ENST00000468294.5:n.42+20_42+31dup
ENST00000485261.1:n.163+20_163+31dup
ENST00000486738.5:n.226+20_226+31dup
ENST00000494443.5:n.139+20_139+31dup
NM_000117.2:c.82+20_82+31dup , LRG_745t1:c.82+20_82+31dup	NP_000108.1:n.82+20_82+31dup
XM_024452349.1:c.-127+20_-127+31dup	XP_024308117.1:n.-127+20_-127+31dup
NM_000117.3:c.82+20_82+31dup MANE Select	NP_000108.1:n.82+20_82+31dup