Canonical Allele Identifier: CA1217925299
Gene: ASPM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197090334_197090339delinsCTTTAA , CM000663.2:g.197090334_197090339delinsCTTTAA GRCh38
NC_000001.10:g.197059464_197059469delinsCTTTAA , CM000663.1:g.197059464_197059469delinsCTTTAA GRCh37
NC_000001.9:g.195326087_195326092delinsCTTTAA NCBI36
NG_015867.1:g.61356_61361delinsTTAAAG

Transcript Alleles

HGVS Amino-acid change
ENST00000367408.6:n.2973_2978delinsTTAAAG
ENST00000367409.9:c.9686_9691delinsTTAAAG MANE Select ENSP00000356379.4:p.Ile3229=
ENST00000680265.1:c.9908_9913delinsTTAAAG ENSP00000505384.1:p.Ile3303=
ENST00000680710.1:c.9662_9667delinsTTAAAG ENSP00000506676.1:p.Ile3221=
ENST00000294732.11:c.4931_4936delinsTTAAAG ENSP00000294732.7:p.Ile1644=
ENST00000367408.5:c.2681_2686delinsTTAAAG ENSP00000356378.1:p.Ile894=
ENST00000367409.8:c.9686_9691delinsTTAAAG ENSP00000356379.4:p.Ile3229=
ENST00000612785.1:c.3644_3649delinsTTAAAG ENSP00000479244.1:p.Ile1215=
NM_001206846.1:c.4931_4936delinsTTAAAG NP_001193775.1:p.Ile1644=
NM_018136.4:c.9686_9691delinsTTAAAG NP_060606.3:p.Ile3229=
NM_018136.5:c.9686_9691delinsTTAAAG MANE Select NP_060606.3:p.Ile3229=
NM_001206846.2:c.4931_4936delinsTTAAAG NP_001193775.1:p.Ile1644=