Canonical Allele Identifier: CA340324
Gene: ASPM HGNC NCBI

Linked Data

ClinVar Variation Id: 4959
ClinVar RCV Id: RCV000005247
dbSNP Id: rs199422184
MyVariant Identifiers: chr1:g.197062317del (hg19) chr1:g.197093187del (hg38)
PubMed: PMID:12355089 PMID:20301772
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197093189del , CM000663.2:g.197093189del GRCh38
NC_000001.10:g.197062319del , CM000663.1:g.197062319del GRCh37
NC_000001.9:g.195328942del NCBI36
NG_015867.1:g.58508del

Transcript Alleles

HGVS Amino-acid change
ENST00000367408.6:n.2446del
ENST00000367409.9:c.9159del MANE Select ENSP00000356379.4:p.Lys3053AsnfsTer5
ENST00000680265.1:c.9381del ENSP00000505384.1:p.Lys3127AsnfsTer5
ENST00000680710.1:c.9159del ENSP00000506676.1:p.Lys3053AsnfsTer5
ENST00000294732.11:c.4404del ENSP00000294732.7:p.Lys1468AsnfsTer5
ENST00000367408.5:c.2154del ENSP00000356378.1:p.Lys718AsnfsTer5
ENST00000367409.8:c.9159del ENSP00000356379.4:p.Lys3053AsnfsTer5
ENST00000612785.1:c.3117del ENSP00000479244.1:p.Lys1039AsnfsTer5
NM_001206846.1:c.4404del NP_001193775.1:p.Lys1468AsnfsTer5
NM_018136.4:c.9159del NP_060606.3:p.Lys3053AsnfsTer5
NM_018136.5:c.9159del MANE Select NP_060606.3:p.Lys3053AsnfsTer5
NM_001206846.2:c.4404del NP_001193775.1:p.Lys1468AsnfsTer5
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