Canonical Allele Identifier: CA645171872

Gene: EMD

Linked Data

• dbSNP Id: rs1557182521
• gnomAD v2: X-153609062-GGCCATGGTGGC-G
• MyVariant Identifiers: chrX:g.153609063_153609073del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380703_154380713del , CM000685.2:g.154380703_154380713del	GRCh38
NC_000023.10:g.153609063_153609073del , CM000685.1:g.153609063_153609073del	GRCh37
NC_000023.9:g.153262257_153262267del	NCBI36
NG_008677.1:g.11268_11278del , LRG_745:g.11268_11278del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.400-50_400-40del	ENSP00000507245.1:n.400-50_400-40del
ENST00000682478.1:n.590-50_590-40del
ENST00000683576.1:n.590-50_590-40del
ENST00000683627.1:c.400-50_400-40del	ENSP00000507533.1:n.400-50_400-40del
ENST00000684082.1:c.357-50_357-40del	ENSP00000508266.1:n.357-50_357-40del
ENST00000684633.1:n.372-50_372-40del
ENST00000684678.1:c.396-50_396-40del	ENSP00000507059.1:n.396-50_396-40del
ENST00000369842.9:c.400-50_400-40del MANE Select	ENSP00000358857.4:n.400-50_400-40del
ENST00000369835.3:c.295-50_295-40del	ENSP00000358850.3:n.295-50_295-40del
ENST00000369842.8:c.400-50_400-40del	ENSP00000358857.4:n.400-50_400-40del
ENST00000428228.5:c.*305-50_*305-40del	ENSP00000401081.1:n.*305-50_*305-40del
ENST00000468294.5:n.360-50_360-40del
ENST00000471965.1:n.139_149del
ENST00000485261.1:n.590-50_590-40del
ENST00000486738.5:n.758-50_758-40del
ENST00000492448.1:n.383-50_383-40del
NM_000117.2:c.400-50_400-40del , LRG_745t1:c.400-50_400-40del	NP_000108.1:n.400-50_400-40del
XM_024452349.1:c.406-50_406-40del	XP_024308117.1:n.406-50_406-40del
NM_000117.3:c.400-50_400-40del MANE Select	NP_000108.1:n.400-50_400-40del