Canonical Allele Identifier: CA2573051453
Gene: ASPM HGNC NCBI

Linked Data

ClinVar Variation Id: 1180803
ClinVar RCV Id: RCV001814532
dbSNP Id: rs2125113775
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197142558del , CM000663.2:g.197142558del GRCh38
NC_000001.10:g.197111688del , CM000663.1:g.197111688del GRCh37
NC_000001.9:g.195378311del NCBI36
NG_015867.1:g.9137del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367409.9:c.1694del MANE Select ENSP00000356379.4:p.Ser565PhefsTer22
ENST00000679766.1:n.1911del
ENST00000680265.1:c.1694del ENSP00000505384.1:p.Ser565PhefsTer22
ENST00000680710.1:c.1694del ENSP00000506676.1:p.Ser565PhefsTer22
ENST00000681879.1:c.1694del ENSP00000505363.1:p.Ser565PhefsTer22
ENST00000294732.11:c.1694del ENSP00000294732.7:p.Ser565PhefsTer22
ENST00000367409.8:c.1694del ENSP00000356379.4:p.Ser565PhefsTer22
ENST00000612785.1:c.561+1133del ENSP00000479244.1:n.561+1133del
NM_001206846.1:c.1694del NP_001193775.1:p.Ser565PhefsTer22
NM_018136.4:c.1694del NP_060606.3:p.Ser565PhefsTer22
NM_018136.5:c.1694del MANE Select NP_060606.3:p.Ser565PhefsTer22
NM_001206846.2:c.1694del NP_001193775.1:p.Ser565PhefsTer22
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