Canonical Allele Identifier: CA645523008
Gene: ASPM HGNC NCBI

Linked Data

COSMIC: COSN190585 COSM251246
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197104198_197104204del , CM000663.2:g.197104198_197104204del GRCh38
NC_000001.10:g.197073328_197073334del , CM000663.1:g.197073328_197073334del GRCh37
NC_000001.9:g.195339951_195339957del NCBI36
NG_015867.1:g.47491_47497del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.2108-8040_2108-8034del
ENST00000367409.9:c.5047_5053del MANE Select ENSP00000356379.4:p.Ile1683CysfsTer7
ENST00000680265.1:c.5047_5053del ENSP00000505384.1:p.Ile1683CysfsTer7
ENST00000680710.1:c.5047_5053del ENSP00000506676.1:p.Ile1683CysfsTer7
ENST00000294732.11:c.4066-8040_4066-8034del ENSP00000294732.7:n.4066-8040_4066-8034del
ENST00000367408.5:c.1816-8040_1816-8034del ENSP00000356378.1:n.1816-8040_1816-8034del
ENST00000367409.8:c.5047_5053del ENSP00000356379.4:p.Ile1683CysfsTer7
ENST00000612785.1:c.562-1557_562-1551del ENSP00000479244.1:n.562-1557_562-1551del
NM_001206846.1:c.4066-8040_4066-8034del NP_001193775.1:n.4066-8040_4066-8034del
NM_018136.4:c.5047_5053del NP_060606.3:p.Ile1683CysfsTer7
NM_018136.5:c.5047_5053del MANE Select NP_060606.3:p.Ile1683CysfsTer7
NM_001206846.2:c.4066-8040_4066-8034del NP_001193775.1:n.4066-8040_4066-8034del
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