Canonical Allele Identifier: CA2566307826
Gene: ELMOD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.107610822_107610824del , CM000673.2:g.107610822_107610824del GRCh38
NC_000011.9:g.107481548_107481550del , CM000673.1:g.107481548_107481550del GRCh37
NC_000011.8:g.106986758_106986760del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000265840.12:c.-85-7283_-85-7281del MANE Select ENSP00000265840.7:n.-85-7283_-85-7281del
ENST00000265840.11:c.-85-7283_-85-7281del ENSP00000265840.7:n.-85-7283_-85-7281del
ENST00000443271.2:c.-85-7283_-85-7281del ENSP00000412257.2:n.-85-7283_-85-7281del
ENST00000524378.5:n.5-7283_5-7281del
ENST00000527036.1:n.105-7283_105-7281del
ENST00000531234.5:c.-239-7283_-239-7281del ENSP00000433232.1:n.-239-7283_-239-7281del
NM_001130037.1:c.-85-7283_-85-7281del NP_001123509.1:n.-85-7283_-85-7281del
NM_001308018.1:c.-239-7283_-239-7281del NP_001294947.1:n.-239-7283_-239-7281del
NM_018712.3:c.-85-7283_-85-7281del NP_061182.3:n.-85-7283_-85-7281del
XM_017017994.2:c.-239-7283_-239-7281del XP_016873483.1:n.-239-7283_-239-7281del
XM_017017995.2:c.-141-7283_-141-7281del XP_016873484.1:n.-141-7283_-141-7281del
NM_018712.4:c.-85-7283_-85-7281del MANE Select NP_061182.3:n.-85-7283_-85-7281del
NM_001130037.2:c.-85-7283_-85-7281del NP_001123509.1:n.-85-7283_-85-7281del
NM_001308018.2:c.-239-7283_-239-7281del NP_001294947.1:n.-239-7283_-239-7281del