Canonical Allele Identifier: CA2695114886

Gene: EMD

Linked Data

• gnomAD v4: X-154379294-C-CAGCCTGCGG

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379299_154379307dup , CM000685.2:g.154379299_154379307dup	GRCh38
NC_000023.10:g.153607659_153607667dup , CM000685.1:g.153607659_153607667dup	GRCh37
NC_000023.9:g.153260853_153260861dup	NCBI36
NG_008677.1:g.9864_9872dup , LRG_745:g.9864_9872dup
NG_011506.1:g.344_352dup
NG_011506.2:g.336_344dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369842.9:c.-186_-178dup MANE Select	ENSP00000358857.4:n.-186_-178dup
ENST00000369835.3:c.-186_-178dup	ENSP00000358850.3:n.-186_-178dup
ENST00000369842.8:c.-186_-178dup	ENSP00000358857.4:n.-186_-178dup
NM_000117.2:c.-186_-178dup , LRG_745t1:c.-186_-178dup	NP_000108.1:n.-186_-178dup
XM_024452349.1:c.-394_-386dup	XP_024308117.1:n.-394_-386dup
NM_000117.3:c.-186_-178dup MANE Select	NP_000108.1:n.-186_-178dup