Canonical Allele Identifier: CA1217946425

Gene: ASPM

Linked Data

• dbSNP Id: rs1658603144

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197142116_197142117insAAAATTGTTA , CM000663.2:g.197142116_197142117insAAAATTGTTA	GRCh38
NC_000001.10:g.197111246_197111247insAAAATTGTTA , CM000663.1:g.197111246_197111247insAAAATTGTTA	GRCh37
NC_000001.9:g.195377869_195377870insAAAATTGTTA	NCBI36
NG_015867.1:g.9584_9585insTTTTTAACAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367409.9:c.1921+220_1921+221insTTTTTAACAA MANE Select	ENSP00000356379.4:n.1921+220_1921+221insTTTTTAACAA
ENST00000679766.1:n.2138+220_2138+221insTTTTTAACAA
ENST00000680265.1:c.1921+220_1921+221insTTTTTAACAA	ENSP00000505384.1:n.1921+220_1921+221insTTTTTAACAA
ENST00000680710.1:c.1921+220_1921+221insTTTTTAACAA	ENSP00000506676.1:n.1921+220_1921+221insTTTTTAACAA
ENST00000681879.1:c.1921+220_1921+221insTTTTTAACAA	ENSP00000505363.1:n.1921+220_1921+221insTTTTTAACAA
ENST00000294732.11:c.1921+220_1921+221insTTTTTAACAA	ENSP00000294732.7:n.1921+220_1921+221insTTTTTAACAA
ENST00000367409.8:c.1921+220_1921+221insTTTTTAACAA	ENSP00000356379.4:n.1921+220_1921+221insTTTTTAACAA
ENST00000612785.1:c.561+1580_561+1581insTTTTTAACAA	ENSP00000479244.1:n.561+1580_561+1581insTTTTTAACAA
NM_001206846.1:c.1921+220_1921+221insTTTTTAACAA	NP_001193775.1:n.1921+220_1921+221insTTTTTAACAA
NM_018136.4:c.1921+220_1921+221insTTTTTAACAA	NP_060606.3:n.1921+220_1921+221insTTTTTAACAA
NM_018136.5:c.1921+220_1921+221insTTTTTAACAA MANE Select	NP_060606.3:n.1921+220_1921+221insTTTTTAACAA
NM_001206846.2:c.1921+220_1921+221insTTTTTAACAA	NP_001193775.1:n.1921+220_1921+221insTTTTTAACAA