Canonical Allele Identifier: CA645171844

Gene: EMD

Linked Data

• dbSNP Id: rs1557182226
• gnomAD v2: X-153607946-A-AGCCCTTCCGGG
• gnomAD v4: X-154379586-A-AGCCCTTCCGGG
• MyVariant Identifiers: chrX:g.153607946_153607947insGCCCTTCCGGG (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379586_154379587insGCCCTTCCGGG , CM000685.2:g.154379586_154379587insGCCCTTCCGGG	GRCh38
NC_000023.10:g.153607946_153607947insGCCCTTCCGGG , CM000685.1:g.153607946_153607947insGCCCTTCCGGG	GRCh37
NC_000023.9:g.153261140_153261141insGCCCTTCCGGG	NCBI36
NG_008677.1:g.10151_10152insGCCCTTCCGGG , LRG_745:g.10151_10152insGCCCTTCCGGG
NG_011506.1:g.60_61insCCCGGAAGGGC
NG_011506.2:g.52_53insCCCGGAAGGGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.82+20_82+21insGCCCTTCCGGG	ENSP00000507245.1:n.82+20_82+21insGCCCTTC...
ENST00000682478.1:n.58+20_58+21insGCCCTTCCGGG
ENST00000683576.1:n.58+20_58+21insGCCCTTCCGGG
ENST00000683627.1:c.82+20_82+21insGCCCTTCCGGG	ENSP00000507533.1:n.82+20_82+21insGCCCTTC...
ENST00000684082.1:c.82+20_82+21insGCCCTTCCGGG	ENSP00000508266.1:n.82+20_82+21insGCCCTTC...
ENST00000684633.1:n.54+24_54+25insGCCCTTCCGGG
ENST00000684678.1:c.78+24_78+25insGCCCTTCCGGG	ENSP00000507059.1:n.78+24_78+25insGCCCTTC...
ENST00000369842.9:c.82+20_82+21insGCCCTTCCGGG MANE Select	ENSP00000358857.4:n.82+20_82+21insGCCCTTC...
ENST00000369835.3:c.82+20_82+21insGCCCTTCCGGG	ENSP00000358850.3:n.82+20_82+21insGCCCTTC...
ENST00000369842.8:c.82+20_82+21insGCCCTTCCGGG	ENSP00000358857.4:n.82+20_82+21insGCCCTTC...
ENST00000428228.5:c.53+49_53+50insGCCCTTCCGGG	ENSP00000401081.1:n.53+49_53+50insGCCCTTC...
ENST00000468294.5:n.42+20_42+21insGCCCTTCCGGG
ENST00000485261.1:n.163+20_163+21insGCCCTTCCGGG
ENST00000486738.5:n.226+20_226+21insGCCCTTCCGGG
ENST00000494443.5:n.139+20_139+21insGCCCTTCCGGG
NM_000117.2:c.82+20_82+21insGCCCTTCCGGG , LRG_745t1:c.82+20_82+21insGCCCTTCCGGG	NP_000108.1:n.82+20_82+21insGCCCTTCCGGG
XM_024452349.1:c.-127+20_-127+21insGCCCTTCCGGG	XP_024308117.1:n.-127+20_-127+21insGCCCTT...
NM_000117.3:c.82+20_82+21insGCCCTTCCGGG MANE Select	NP_000108.1:n.82+20_82+21insGCCCTTCCGGG