Canonical Allele Identifier: CA2574124291

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197102479_197102481del , CM000663.2:g.197102479_197102481del	GRCh38
NC_000001.10:g.197071609_197071611del , CM000663.1:g.197071609_197071611del	GRCh37
NC_000001.9:g.195338232_195338234del	NCBI36
NG_015867.1:g.49214_49216del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-6317_2108-6315del
ENST00000367409.9:c.6770_6772del MANE Select	ENSP00000356379.4:p.Arg2257_His2258delinsAsn
ENST00000680265.1:c.6770_6772del	ENSP00000505384.1:p.Arg2257_His2258delinsAsn
ENST00000680710.1:c.6770_6772del	ENSP00000506676.1:p.Arg2257_His2258delinsAsn
ENST00000294732.11:c.4066-6317_4066-6315del	ENSP00000294732.7:n.4066-6317_4066-6315del
ENST00000367408.5:c.1816-6317_1816-6315del	ENSP00000356378.1:n.1816-6317_1816-6315del
ENST00000367409.8:c.6770_6772del	ENSP00000356379.4:p.Arg2257_His2258delinsAsn
ENST00000612785.1:c.728_730del	ENSP00000479244.1:p.Arg243_His244delinsAsn
NM_001206846.1:c.4066-6317_4066-6315del	NP_001193775.1:n.4066-6317_4066-6315del
NM_018136.4:c.6770_6772del	NP_060606.3:p.Arg2257_His2258delinsAsn
NM_018136.5:c.6770_6772del MANE Select	NP_060606.3:p.Arg2257_His2258delinsAsn
NM_001206846.2:c.4066-6317_4066-6315del	NP_001193775.1:n.4066-6317_4066-6315del