Canonical Allele Identifier: CA1217926673
Gene: ASPM HGNC NCBI

Linked Data

dbSNP Id: rs1656836089

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197093070del , CM000663.2:g.197093070del GRCh38
NC_000001.10:g.197062200del , CM000663.1:g.197062200del GRCh37
NC_000001.9:g.195328823del NCBI36
NG_015867.1:g.58626del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.2564del
ENST00000367409.9:c.9277del MANE Select ENSP00000356379.4:p.Trp3093GlyfsTer2
ENST00000680265.1:c.9499del ENSP00000505384.1:p.Trp3167GlyfsTer2
ENST00000680710.1:c.9277del ENSP00000506676.1:p.Trp3093GlyfsTer2
ENST00000294732.11:c.4522del ENSP00000294732.7:p.Trp1508GlyfsTer2
ENST00000367408.5:c.2272del ENSP00000356378.1:p.Trp758GlyfsTer2
ENST00000367409.8:c.9277del ENSP00000356379.4:p.Trp3093GlyfsTer2
ENST00000612785.1:c.3235del ENSP00000479244.1:p.Trp1079GlyfsTer2
NM_001206846.1:c.4522del NP_001193775.1:p.Trp1508GlyfsTer2
NM_018136.4:c.9277del NP_060606.3:p.Trp3093GlyfsTer2
NM_018136.5:c.9277del MANE Select NP_060606.3:p.Trp3093GlyfsTer2
NM_001206846.2:c.4522del NP_001193775.1:p.Trp1508GlyfsTer2