Canonical Allele Identifier: CA2606711072
Gene: ASPM HGNC NCBI

Linked Data

gnomAD v3: 1-197142354-TTCTC-T
gnomAD v4: 1-197142354-TTCTC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197142358_197142361del , CM000663.2:g.197142358_197142361del GRCh38
NC_000001.10:g.197111488_197111491del , CM000663.1:g.197111488_197111491del GRCh37
NC_000001.9:g.195378111_195378114del NCBI36
NG_015867.1:g.9337_9340del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367409.9:c.1894_1897del MANE Select ENSP00000356379.4:p.Glu632AsnfsTer2
ENST00000679766.1:n.2111_2114del
ENST00000680265.1:c.1894_1897del ENSP00000505384.1:p.Glu632AsnfsTer2
ENST00000680710.1:c.1894_1897del ENSP00000506676.1:p.Glu632AsnfsTer2
ENST00000681879.1:c.1894_1897del ENSP00000505363.1:p.Glu632AsnfsTer2
ENST00000294732.11:c.1894_1897del ENSP00000294732.7:p.Glu632AsnfsTer2
ENST00000367409.8:c.1894_1897del ENSP00000356379.4:p.Glu632AsnfsTer2
ENST00000612785.1:c.561+1333_561+1336del ENSP00000479244.1:n.561+1333_561+1336del
NM_001206846.1:c.1894_1897del NP_001193775.1:p.Glu632AsnfsTer2
NM_018136.4:c.1894_1897del NP_060606.3:p.Glu632AsnfsTer2
NM_018136.5:c.1894_1897del MANE Select NP_060606.3:p.Glu632AsnfsTer2
NM_001206846.2:c.1894_1897del NP_001193775.1:p.Glu632AsnfsTer2
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