Canonical Allele Identifier: CA645171825

Gene: EMD

Linked Data

• dbSNP Id: rs1463296648
• gnomAD v2: X-153607674-C-CGTGACGCGACAACGATTCGGCT
• gnomAD v3: X-154379314-C-CGTGACGCGACAACGATTCGGCT
• gnomAD v4: X-154379314-C-CGTGACGCGACAACGATTCGGCT
• MyVariant Identifiers: chrX:g.153607696_153607697insGTGACGCGACAACGATTCGGCT (hg19) ; chrX:g.154379336_154379337insGTGACGCGACAACGATTCGGCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379346_154379367dup , CM000685.2:g.154379346_154379367dup	GRCh38
NC_000023.10:g.153607706_153607727dup , CM000685.1:g.153607706_153607727dup	GRCh37
NC_000023.9:g.153260900_153260921dup	NCBI36
NG_008677.1:g.9911_9932dup , LRG_745:g.9911_9932dup
NG_011506.1:g.311_332dup
NG_011506.2:g.303_324dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369842.9:c.-139_-118dup MANE Select	ENSP00000358857.4:n.-139_-118dup
ENST00000369835.3:c.-139_-118dup	ENSP00000358850.3:n.-139_-118dup
ENST00000369842.8:c.-139_-118dup	ENSP00000358857.4:n.-139_-118dup
NM_000117.2:c.-139_-118dup , LRG_745t1:c.-139_-118dup	NP_000108.1:n.-139_-118dup
XM_024452349.1:c.-347_-326dup	XP_024308117.1:n.-347_-326dup
NM_000117.3:c.-139_-118dup MANE Select	NP_000108.1:n.-139_-118dup