Canonical Allele Identifier: CA528535060

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197088299_197088301del , CM000663.2:g.197088299_197088301del	GRCh38
NC_000001.10:g.197057429_197057431del , CM000663.1:g.197057429_197057431del	GRCh37
NC_000001.9:g.195324052_195324054del	NCBI36
NG_015867.1:g.63399_63401del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3408_3410del
ENST00000367409.9:c.10121_10123del MANE Select	ENSP00000356379.4:p.Cys3374del
ENST00000680265.1:c.10343_10345del	ENSP00000505384.1:p.Cys3448del
ENST00000680710.1:c.10097_10099del	ENSP00000506676.1:p.Cys3366del
ENST00000294732.11:c.5366_5368del	ENSP00000294732.7:p.Cys1789del
ENST00000367408.5:c.3116_3118del	ENSP00000356378.1:p.Cys1039del
ENST00000367409.8:c.10121_10123del	ENSP00000356379.4:p.Cys3374del
ENST00000612785.1:c.4079_4081del	ENSP00000479244.1:p.Cys1360del
NM_001206846.1:c.5366_5368del	NP_001193775.1:p.Cys1789del
NM_018136.4:c.10121_10123del	NP_060606.3:p.Cys3374del
NM_018136.5:c.10121_10123del MANE Select	NP_060606.3:p.Cys3374del
NM_001206846.2:c.5366_5368del	NP_001193775.1:p.Cys1789del