Canonical Allele Identifier: CA1138576090

Gene: EMD

Linked Data

• dbSNP Id: rs2067871477
• gnomAD v3: X-154379299-T-TGCGGAGCCA
• gnomAD v4: X-154379299-T-TGCGGAGCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379304_154379312dup , CM000685.2:g.154379304_154379312dup	GRCh38
NC_000023.10:g.153607664_153607672dup , CM000685.1:g.153607664_153607672dup	GRCh37
NC_000023.9:g.153260858_153260866dup	NCBI36
NG_008677.1:g.9869_9877dup , LRG_745:g.9869_9877dup
NG_011506.1:g.339_347dup
NG_011506.2:g.331_339dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369842.9:c.-181_-173dup MANE Select	ENSP00000358857.4:n.-181_-173dup
ENST00000369835.3:c.-181_-173dup	ENSP00000358850.3:n.-181_-173dup
ENST00000369842.8:c.-181_-173dup	ENSP00000358857.4:n.-181_-173dup
NM_000117.2:c.-181_-173dup , LRG_745t1:c.-181_-173dup	NP_000108.1:n.-181_-173dup
XM_024452349.1:c.-389_-381dup	XP_024308117.1:n.-389_-381dup
NM_000117.3:c.-181_-173dup MANE Select	NP_000108.1:n.-181_-173dup