Canonical Allele Identifier: CA1309619

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197103068_197103069del , CM000663.2:g.197103068_197103069del	GRCh38
NC_000001.10:g.197072198_197072199del , CM000663.1:g.197072198_197072199del	GRCh37
NC_000001.9:g.195338821_195338822del	NCBI36
NG_015867.1:g.48627_48628del

Transcript Alleles

HGVS	Amino-acid Change
NM_018136.5:c.6183_6184del MANE Select	NP_060606.3:p.Lys2062IlefsTer5
ENST00000367409.9:c.6183_6184del MANE Select	ENSP00000356379.4:p.Lys2062IlefsTer5
NM_001206846.1:c.4066-6904_4066-6903del	NP_001193775.1:n.4066-6904_4066-6903del
NM_001206846.2:c.4066-6904_4066-6903del	NP_001193775.1:n.4066-6904_4066-6903del
NM_018136.4:c.6183_6184del	NP_060606.3:p.Lys2062IlefsTer5
ENST00000294732.11:c.4066-6904_4066-6903del	ENSP00000294732.7:n.4066-6904_4066-6903del
ENST00000367408.5:c.1816-6904_1816-6903del	ENSP00000356378.1:n.1816-6904_1816-6903del
ENST00000367408.6:n.2108-6904_2108-6903del
ENST00000367409.8:c.6183_6184del	ENSP00000356379.4:p.Lys2062IlefsTer5
ENST00000612785.1:c.562-421_562-420del	ENSP00000479244.1:n.562-421_562-420del
ENST00000680265.1:c.6183_6184del	ENSP00000505384.1:p.Lys2062IlefsTer5
ENST00000680710.1:c.6183_6184del	ENSP00000506676.1:p.Lys2062IlefsTer5