Canonical Allele Identifier: CA1310643
Gene: ASPM HGNC NCBI

Linked Data

dbSNP Id: rs779765020

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197142430_197142431del , CM000663.2:g.197142430_197142431del GRCh38
NC_000001.10:g.197111560_197111561del , CM000663.1:g.197111560_197111561del GRCh37
NC_000001.9:g.195378183_195378184del NCBI36
NG_015867.1:g.9266_9267del

Transcript Alleles

HGVS Amino-acid change
ENST00000367409.9:c.1823_1824del MANE Select ENSP00000356379.4:p.Glu608AlafsTer2
ENST00000679766.1:n.2040_2041del
ENST00000680265.1:c.1823_1824del ENSP00000505384.1:p.Glu608AlafsTer2
ENST00000680710.1:c.1823_1824del ENSP00000506676.1:p.Glu608AlafsTer2
ENST00000681879.1:c.1823_1824del ENSP00000505363.1:p.Glu608AlafsTer2
ENST00000294732.11:c.1823_1824del ENSP00000294732.7:p.Glu608AlafsTer2
ENST00000367409.8:c.1823_1824del ENSP00000356379.4:p.Glu608AlafsTer2
ENST00000612785.1:c.561+1262_561+1263del ENSP00000479244.1:n.561+1262_561+1263del
NM_001206846.1:c.1823_1824del NP_001193775.1:p.Glu608AlafsTer2
NM_018136.4:c.1823_1824del NP_060606.3:p.Glu608AlafsTer2
NM_018136.5:c.1823_1824del MANE Select NP_060606.3:p.Glu608AlafsTer2
NM_001206846.2:c.1823_1824del NP_001193775.1:p.Glu608AlafsTer2