Canonical Allele Identifier: CA2695114908
Gene: EMD HGNC NCBI

Linked Data

gnomAD v4: X-154379322-GA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154379323del , CM000685.2:g.154379323del GRCh38
NC_000023.10:g.153607683del , CM000685.1:g.153607683del GRCh37
NC_000023.9:g.153260877del NCBI36
NG_008677.1:g.9888del , LRG_745:g.9888del
NG_011506.1:g.324del
NG_011506.2:g.316del

Transcript Alleles

HGVS Amino-acid change
ENST00000369842.9:c.-162del MANE Select ENSP00000358857.4:n.-162del
ENST00000369835.3:c.-162del ENSP00000358850.3:n.-162del
ENST00000369842.8:c.-162del ENSP00000358857.4:n.-162del
NM_000117.2:c.-162del , LRG_745t1:c.-162del NP_000108.1:n.-162del
XM_024452349.1:c.-370del XP_024308117.1:n.-370del
NM_000117.3:c.-162del MANE Select NP_000108.1:n.-162del
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