Canonical Allele Identifier: CA916083401
Gene: INF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 848707
ClinVar RCV Id: RCV001052524
dbSNP Id: rs1889495846

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.104701553_104701573del , CM000676.2:g.104701553_104701573del GRCh38
NC_000014.8:g.105167890_105167910del , CM000676.1:g.105167890_105167910del GRCh37
NC_000014.7:g.104238935_104238955del NCBI36
NG_027684.1:g.16948_16968del

Transcript Alleles

HGVS Amino-acid Change
ENST00000392634.9:c.188_208del MANE Select ENSP00000376410.4:p.Gly63_Leu69del
ENST00000617571.5:c.188_208del ENSP00000483829.2:p.Gly63_Leu69del
ENST00000674520.1:c.188_208del ENSP00000502593.1:p.Gly63_Leu69del
ENST00000674662.1:c.188_208del ENSP00000501895.1:p.Gly63_Leu69del
ENST00000674723.1:c.188_208del ENSP00000502257.1:p.Gly63_Leu69del
ENST00000674757.1:c.188_208del ENSP00000502202.1:p.Gly63_Leu69del
ENST00000674822.1:c.188_208del ENSP00000501552.1:p.Gly63_Leu69del
ENST00000674846.1:c.188_208del ENSP00000502431.1:p.Gly63_Leu69del
ENST00000674857.1:c.188_208del ENSP00000501687.1:p.Gly63_Leu69del
ENST00000674869.1:c.188_208del ENSP00000501558.1:p.Gly63_Leu69del
ENST00000674960.1:c.188_208del ENSP00000501841.1:p.Gly63_Leu69del
ENST00000674966.1:n.656_676del
ENST00000674991.1:c.188_208del ENSP00000502004.1:p.Gly63_Leu69del
ENST00000674994.1:c.188_208del ENSP00000502442.1:p.Gly63_Leu69del
ENST00000675207.1:c.284_304del ENSP00000502644.1:p.Gly95_Leu101del
ENST00000675313.1:n.229_249del
ENST00000675329.1:c.188_208del ENSP00000502287.1:p.Gly63_Leu69del
ENST00000675481.1:c.188_208del ENSP00000502723.1:p.Gly63_Leu69del
ENST00000675482.1:c.188_208del ENSP00000501798.1:p.Gly63_Leu69del
ENST00000675583.1:c.188_208del ENSP00000501740.1:p.Gly63_Leu69del
ENST00000675616.1:n.228_248del
ENST00000675638.1:c.188_208del ENSP00000501647.1:p.Gly63_Leu69del
ENST00000675724.1:c.188_208del ENSP00000502576.1:p.Gly63_Leu69del
ENST00000675771.1:c.188_208del ENSP00000502104.1:p.Gly63_Leu69del
ENST00000675797.1:c.188_208del ENSP00000502023.1:p.Gly63_Leu69del
ENST00000675809.1:c.188_208del ENSP00000502587.1:p.Gly63_Leu69del
ENST00000675930.1:c.188_208del ENSP00000502456.1:p.Gly63_Leu69del
ENST00000675980.1:c.188_208del ENSP00000502520.1:p.Gly63_Leu69del
ENST00000676016.1:c.188_208del ENSP00000502412.1:p.Gly63_Leu69del
ENST00000676100.1:n.325_345del
ENST00000676366.1:c.188_208del ENSP00000501605.1:p.Gly63_Leu69del
ENST00000676427.1:c.188_208del ENSP00000502106.1:p.Gly63_Leu69del
ENST00000330634.11:c.188_208del ENSP00000376406.3:p.Gly63_Leu69del
ENST00000392634.8:c.188_208del ENSP00000376410.4:p.Gly63_Leu69del
ENST00000398337.8:c.188_208del ENSP00000381380.4:p.Gly63_Leu69del
NM_001031714.3:c.188_208del NP_001026884.3:p.Gly63_Leu69del
NM_022489.3:c.188_208del NP_071934.3:p.Gly63_Leu69del
NM_032714.2:c.188_208del NP_116103.1:p.Gly63_Leu69del
XM_005268004.3:c.284_304del XP_005268061.1:p.Gly95_Leu101del
XM_005268005.3:c.284_304del XP_005268062.1:p.Gly95_Leu101del
XR_943507.1:n.413_433del
XM_005268004.4:c.284_304del XP_005268061.1:p.Gly95_Leu101del
XM_005268005.4:c.284_304del XP_005268062.1:p.Gly95_Leu101del
XM_017021595.1:c.284_304del XP_016877084.1:p.Gly95_Leu101del
XR_001750518.1:n.389_409del
NM_001031714.4:c.188_208del NP_001026884.3:p.Gly63_Leu69del
NM_022489.4:c.188_208del MANE Select NP_071934.3:p.Gly63_Leu69del
NM_032714.3:c.188_208del NP_116103.1:p.Gly63_Leu69del