Canonical Allele Identifier: CA2574124298

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197103821_197103822insACTT , CM000663.2:g.197103821_197103822insACTT	GRCh38
NC_000001.10:g.197072951_197072952insACTT , CM000663.1:g.197072951_197072952insACTT	GRCh37
NC_000001.9:g.195339574_195339575insACTT	NCBI36
NG_015867.1:g.47874_47875insAGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-7657_2108-7656insAGTA
ENST00000367409.9:c.5430_5431insAGTA MANE Select	ENSP00000356379.4:p.Ala1811SerfsTer7
ENST00000680265.1:c.5430_5431insAGTA	ENSP00000505384.1:p.Ala1811SerfsTer7
ENST00000680710.1:c.5430_5431insAGTA	ENSP00000506676.1:p.Ala1811SerfsTer7
ENST00000294732.11:c.4066-7657_4066-7656insAGTA	ENSP00000294732.7:n.4066-7657_4066-7656insAGTA
ENST00000367408.5:c.1816-7657_1816-7656insAGTA	ENSP00000356378.1:n.1816-7657_1816-7656insAGTA
ENST00000367409.8:c.5430_5431insAGTA	ENSP00000356379.4:p.Ala1811SerfsTer7
ENST00000612785.1:c.562-1174_562-1173insAGTA	ENSP00000479244.1:n.562-1174_562-1173insAGTA
NM_001206846.1:c.4066-7657_4066-7656insAGTA	NP_001193775.1:n.4066-7657_4066-7656insAGTA
NM_018136.4:c.5430_5431insAGTA	NP_060606.3:p.Ala1811SerfsTer7
NM_018136.5:c.5430_5431insAGTA MANE Select	NP_060606.3:p.Ala1811SerfsTer7
NM_001206846.2:c.4066-7657_4066-7656insAGTA	NP_001193775.1:n.4066-7657_4066-7656insAGTA