Canonical Allele Identifier: CA2574124300

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197103958_197103959del , CM000663.2:g.197103958_197103959del	GRCh38
NC_000001.10:g.197073088_197073089del , CM000663.1:g.197073088_197073089del	GRCh37
NC_000001.9:g.195339711_195339712del	NCBI36
NG_015867.1:g.47738_47739del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-7793_2108-7792del
ENST00000367409.9:c.5294_5295del MANE Select	ENSP00000356379.4:p.Arg1765LysfsTer11
ENST00000680265.1:c.5294_5295del	ENSP00000505384.1:p.Arg1765LysfsTer11
ENST00000680710.1:c.5294_5295del	ENSP00000506676.1:p.Arg1765LysfsTer11
ENST00000294732.11:c.4066-7793_4066-7792del	ENSP00000294732.7:n.4066-7793_4066-7792del
ENST00000367408.5:c.1816-7793_1816-7792del	ENSP00000356378.1:n.1816-7793_1816-7792del
ENST00000367409.8:c.5294_5295del	ENSP00000356379.4:p.Arg1765LysfsTer11
ENST00000612785.1:c.562-1310_562-1309del	ENSP00000479244.1:n.562-1310_562-1309del
NM_001206846.1:c.4066-7793_4066-7792del	NP_001193775.1:n.4066-7793_4066-7792del
NM_018136.4:c.5294_5295del	NP_060606.3:p.Arg1765LysfsTer11
NM_018136.5:c.5294_5295del MANE Select	NP_060606.3:p.Arg1765LysfsTer11
NM_001206846.2:c.4066-7793_4066-7792del	NP_001193775.1:n.4066-7793_4066-7792del