Canonical Allele Identifier: CA1217946593
Gene: ASPM HGNC NCBI

Linked Data

dbSNP Id: rs1658665406

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197143413del , CM000663.2:g.197143413del GRCh38
NC_000001.10:g.197112543del , CM000663.1:g.197112543del GRCh37
NC_000001.9:g.195379166del NCBI36
NG_015867.1:g.8283del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367409.9:c.840del MANE Select ENSP00000356379.4:p.Phe281LeufsTer4
ENST00000679766.1:n.1057del
ENST00000680265.1:c.840del ENSP00000505384.1:p.Phe281LeufsTer4
ENST00000680710.1:c.840del ENSP00000506676.1:p.Phe281LeufsTer4
ENST00000681879.1:c.840del ENSP00000505363.1:p.Phe281LeufsTer4
ENST00000294732.11:c.840del ENSP00000294732.7:p.Phe281LeufsTer4
ENST00000367409.8:c.840del ENSP00000356379.4:p.Phe281LeufsTer4
ENST00000612785.1:c.561+279del ENSP00000479244.1:n.561+279del
NM_001206846.1:c.840del NP_001193775.1:p.Phe281LeufsTer4
NM_018136.4:c.840del NP_060606.3:p.Phe281LeufsTer4
NM_018136.5:c.840del MANE Select NP_060606.3:p.Phe281LeufsTer4
NM_001206846.2:c.840del NP_001193775.1:p.Phe281LeufsTer4