Canonical Allele Identifier: CA2503223820

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197102868_197102877del , CM000663.2:g.197102868_197102877del	GRCh38
NC_000001.10:g.197071998_197072007del , CM000663.1:g.197071998_197072007del	GRCh37
NC_000001.9:g.195338621_195338630del	NCBI36
NG_015867.1:g.48818_48827del

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.2108-6713_2108-6704del
ENST00000367409.9:c.6374_6383del MANE Select	ENSP00000356379.4:p.Ala2125GlufsTer7
ENST00000680265.1:c.6374_6383del	ENSP00000505384.1:p.Ala2125GlufsTer7
ENST00000680710.1:c.6374_6383del	ENSP00000506676.1:p.Ala2125GlufsTer7
ENST00000294732.11:c.4066-6713_4066-6704del	ENSP00000294732.7:n.4066-6713_4066-6704de...
ENST00000367408.5:c.1816-6713_1816-6704del	ENSP00000356378.1:n.1816-6713_1816-6704de...
ENST00000367409.8:c.6374_6383del	ENSP00000356379.4:p.Ala2125GlufsTer7
ENST00000612785.1:c.562-230_562-221del	ENSP00000479244.1:n.562-230_562-221del
NM_001206846.1:c.4066-6713_4066-6704del	NP_001193775.1:n.4066-6713_4066-6704del
NM_018136.4:c.6374_6383del	NP_060606.3:p.Ala2125GlufsTer7
NM_018136.5:c.6374_6383del MANE Select	NP_060606.3:p.Ala2125GlufsTer7
NM_001206846.2:c.4066-6713_4066-6704del	NP_001193775.1:n.4066-6713_4066-6704del