Canonical Allele Identifier: CA2574124293

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197102667_197102670del , CM000663.2:g.197102667_197102670del	GRCh38
NC_000001.10:g.197071797_197071800del , CM000663.1:g.197071797_197071800del	GRCh37
NC_000001.9:g.195338420_195338423del	NCBI36
NG_015867.1:g.49027_49030del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-6504_2108-6501del
ENST00000367409.9:c.6583_6586del MANE Select	ENSP00000356379.4:p.Leu2195PhefsTer17
ENST00000680265.1:c.6583_6586del	ENSP00000505384.1:p.Leu2195PhefsTer17
ENST00000680710.1:c.6583_6586del	ENSP00000506676.1:p.Leu2195PhefsTer17
ENST00000294732.11:c.4066-6504_4066-6501del	ENSP00000294732.7:n.4066-6504_4066-6501del
ENST00000367408.5:c.1816-6504_1816-6501del	ENSP00000356378.1:n.1816-6504_1816-6501del
ENST00000367409.8:c.6583_6586del	ENSP00000356379.4:p.Leu2195PhefsTer17
ENST00000612785.1:c.562-21_562-18del	ENSP00000479244.1:n.562-21_562-18del
NM_001206846.1:c.4066-6504_4066-6501del	NP_001193775.1:n.4066-6504_4066-6501del
NM_018136.4:c.6583_6586del	NP_060606.3:p.Leu2195PhefsTer17
NM_018136.5:c.6583_6586del MANE Select	NP_060606.3:p.Leu2195PhefsTer17
NM_001206846.2:c.4066-6504_4066-6501del	NP_001193775.1:n.4066-6504_4066-6501del