Canonical Allele Identifier: CA1010894606
Gene: ASPM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197143403_197143404insAATTAAAGGAAGTTTCAGTTACAGCTCTCCTCTTTGGCCATTAACATTTACA , CM000663.2:g.197143403_197143404insAATTAAAGGAAGTTTCAGTTACAGCTCTCCTCTTTGGCCATTAACATTTACA GRCh38
NC_000001.10:g.197112533_197112534insAATTAAAGGAAGTTTCAGTTACAGCTCTCCTCTTTGGCCATTAACATTTACA , CM000663.1:g.197112533_197112534insAATTAAAGGAAGTTTCAGTTACAGCTCTCCTCTTTGGCCATTAACATTTACA GRCh37
NC_000001.9:g.195379156_195379157insAATTAAAGGAAGTTTCAGTTACAGCTCTCCTCTTTGGCCATTAACATTTACA NCBI36
NG_015867.1:g.8291_8292insTGTAAATGTTAATGGCCAAAGAGGAGAGCTGTAACTGAAACTTCCTTTAATT

Transcript Alleles

HGVS Amino-acid Change
ENST00000367409.9:c.848_849insTGTAAATGTTAATGGCCAAAGAGGAGAGCTGTAACTGAAACTTCCTTTAATT MANE Select ENSP00000356379.4:p.Asn293LeufsTer2
ENST00000679766.1:n.1065_1066insTGTAAATGTTAATGGCCAAAGAGGAGAGCTGTAACTGAAACTTCCTTTAATT
ENST00000680265.1:c.848_849insTGTAAATGTTAATGGCCAAAGAGGAGAGCTGTAACTGAAACTTCCTTTAATT ENSP00000505384.1:p.Asn293LeufsTer2
ENST00000680710.1:c.848_849insTGTAAATGTTAATGGCCAAAGAGGAGAGCTGTAACTGAAACTTCCTTTAATT ENSP00000506676.1:p.Asn293LeufsTer2
ENST00000681879.1:c.848_849insTGTAAATGTTAATGGCCAAAGAGGAGAGCTGTAACTGAAACTTCCTTTAATT ENSP00000505363.1:p.Asn293LeufsTer2
ENST00000294732.11:c.848_849insTGTAAATGTTAATGGCCAAAGAGGAGAGCTGTAACTGAAACTTCCTTTAATT ENSP00000294732.7:p.Asn293LeufsTer2
ENST00000367409.8:c.848_849insTGTAAATGTTAATGGCCAAAGAGGAGAGCTGTAACTGAAACTTCCTTTAATT ENSP00000356379.4:p.Asn293LeufsTer2
ENST00000612785.1:c.561+287_561+288insTGTAAATGTTAATGGCCAAAGAGGAGAGCTGTAACTGAAACTTCCTTTAATT ENSP00000479244.1:n.561+287_561+288insTGTAAATGTTAATGGCCAAAGAG...
NM_001206846.1:c.848_849insTGTAAATGTTAATGGCCAAAGAGGAGAGCTGTAACTGAAACTTCCTTTAATT NP_001193775.1:p.Asn293LeufsTer2
NM_018136.4:c.848_849insTGTAAATGTTAATGGCCAAAGAGGAGAGCTGTAACTGAAACTTCCTTTAATT NP_060606.3:p.Asn293LeufsTer2
NM_018136.5:c.848_849insTGTAAATGTTAATGGCCAAAGAGGAGAGCTGTAACTGAAACTTCCTTTAATT MANE Select NP_060606.3:p.Asn293LeufsTer2
NM_001206846.2:c.848_849insTGTAAATGTTAATGGCCAAAGAGGAGAGCTGTAACTGAAACTTCCTTTAATT NP_001193775.1:p.Asn293LeufsTer2