Canonical Allele Identifier: CA1217945364
Gene: ASPM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197142525_197142528delinsTTTC , CM000663.2:g.197142525_197142528delinsTTTC GRCh38
NC_000001.10:g.197111655_197111658delinsTTTC , CM000663.1:g.197111655_197111658delinsTTTC GRCh37
NC_000001.9:g.195378278_195378281delinsTTTC NCBI36
NG_015867.1:g.9167_9170delinsGAAA

Transcript Alleles

HGVS Amino-acid change
ENST00000367409.9:c.1724_1727delinsGAAA MANE Select ENSP00000356379.4:p.Arg575=
ENST00000679766.1:n.1941_1944delinsGAAA
ENST00000680265.1:c.1724_1727delinsGAAA ENSP00000505384.1:p.Arg575=
ENST00000680710.1:c.1724_1727delinsGAAA ENSP00000506676.1:p.Arg575=
ENST00000681879.1:c.1724_1727delinsGAAA ENSP00000505363.1:p.Arg575=
ENST00000294732.11:c.1724_1727delinsGAAA ENSP00000294732.7:p.Arg575=
ENST00000367409.8:c.1724_1727delinsGAAA ENSP00000356379.4:p.Arg575=
ENST00000612785.1:c.561+1163_561+1166delinsGAAA ENSP00000479244.1:n.561+1163_561+1166deli...
NM_001206846.1:c.1724_1727delinsGAAA NP_001193775.1:p.Arg575=
NM_018136.4:c.1724_1727delinsGAAA NP_060606.3:p.Arg575=
NM_018136.5:c.1724_1727delinsGAAA MANE Select NP_060606.3:p.Arg575=
NM_001206846.2:c.1724_1727delinsGAAA NP_001193775.1:p.Arg575=