Canonical Allele Identifier: CA2747239572

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090133_197090134insCCAAACACACCCAACAC , CM000663.2:g.197090133_197090134insCCAAACACACCCAACAC	GRCh38
NC_000001.10:g.197059263_197059264insCCAAACACACCCAACAC , CM000663.1:g.197059263_197059264insCCAAACACACCCAACAC	GRCh37
NC_000001.9:g.195325886_195325887insCCAAACACACCCAACAC	NCBI36
NG_015867.1:g.61561_61562insGTGTTGGGTGTGTTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3117-50_3117-49insGTGTTGGGTGTGTTTGG
ENST00000367409.9:c.9830-50_9830-49insGTGTTGGGTGTGTTTGG MANE Select	ENSP00000356379.4:n.9830-50_9830-49insGTGTTGGGTGTGTTTGG
ENST00000680265.1:c.10052-50_10052-49insGTGTTGGGTGTGTTTGG	ENSP00000505384.1:n.10052-50_10052-49insGTGTTGGGTGTGTTTGG
ENST00000680710.1:c.9806-50_9806-49insGTGTTGGGTGTGTTTGG	ENSP00000506676.1:n.9806-50_9806-49insGTGTTGGGTGTGTTTGG
ENST00000294732.11:c.5075-50_5075-49insGTGTTGGGTGTGTTTGG	ENSP00000294732.7:n.5075-50_5075-49insGTGTTGGGTGTGTTTGG
ENST00000367408.5:c.2825-50_2825-49insGTGTTGGGTGTGTTTGG	ENSP00000356378.1:n.2825-50_2825-49insGTGTTGGGTGTGTTTGG
ENST00000367409.8:c.9830-50_9830-49insGTGTTGGGTGTGTTTGG	ENSP00000356379.4:n.9830-50_9830-49insGTGTTGGGTGTGTTTGG
ENST00000612785.1:c.3788-50_3788-49insGTGTTGGGTGTGTTTGG	ENSP00000479244.1:n.3788-50_3788-49insGTGTTGGGTGTGTTTGG
NM_001206846.1:c.5075-50_5075-49insGTGTTGGGTGTGTTTGG	NP_001193775.1:n.5075-50_5075-49insGTGTTGGGTGTGTTTGG
NM_018136.4:c.9830-50_9830-49insGTGTTGGGTGTGTTTGG	NP_060606.3:n.9830-50_9830-49insGTGTTGGGTGTGTTTGG
NM_018136.5:c.9830-50_9830-49insGTGTTGGGTGTGTTTGG MANE Select	NP_060606.3:n.9830-50_9830-49insGTGTTGGGTGTGTTTGG
NM_001206846.2:c.5075-50_5075-49insGTGTTGGGTGTGTTTGG	NP_001193775.1:n.5075-50_5075-49insGTGTTGGGTGTGTTTGG