Canonical Allele Identifier: CA1217929675

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197100756_197100759delinsTTTC , CM000663.2:g.197100756_197100759delinsTTTC	GRCh38
NC_000001.10:g.197069886_197069889delinsTTTC , CM000663.1:g.197069886_197069889delinsTTTC	GRCh37
NC_000001.9:g.195336509_195336512delinsTTTC	NCBI36
NG_015867.1:g.50936_50939delinsGAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-4595_2108-4592delinsGAAA
ENST00000367409.9:c.8492_8495delinsGAAA MANE Select	ENSP00000356379.4:p.Arg2831=
ENST00000680265.1:c.8492_8495delinsGAAA	ENSP00000505384.1:p.Arg2831=
ENST00000680710.1:c.8492_8495delinsGAAA	ENSP00000506676.1:p.Arg2831=
ENST00000294732.11:c.4066-4595_4066-4592delinsGAAA	ENSP00000294732.7:n.4066-4595_4066-4592delinsGAAA
ENST00000367408.5:c.1816-4595_1816-4592delinsGAAA	ENSP00000356378.1:n.1816-4595_1816-4592delinsGAAA
ENST00000367409.8:c.8492_8495delinsGAAA	ENSP00000356379.4:p.Arg2831=
ENST00000612785.1:c.2450_2453delinsGAAA	ENSP00000479244.1:p.Arg817=
NM_001206846.1:c.4066-4595_4066-4592delinsGAAA	NP_001193775.1:n.4066-4595_4066-4592delinsGAAA
NM_018136.4:c.8492_8495delinsGAAA	NP_060606.3:p.Arg2831=
NM_018136.5:c.8492_8495delinsGAAA MANE Select	NP_060606.3:p.Arg2831=
NM_001206846.2:c.4066-4595_4066-4592delinsGAAA	NP_001193775.1:n.4066-4595_4066-4592delinsGAAA