Canonical Allele Identifier: CA2503863080

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197101181_197101182insATTGTTAACCAATCTGCACTCTG , CM000663.2:g.197101181_197101182insATTGTTAACCAATCTGCACTCTG	GRCh38
NC_000001.10:g.197070311_197070312insATTGTTAACCAATCTGCACTCTG , CM000663.1:g.197070311_197070312insATTGTTAACCAATCTGCACTCTG	GRCh37
NC_000001.9:g.195336934_195336935insATTGTTAACCAATCTGCACTCTG	NCBI36
NG_015867.1:g.50513_50514insCAGAGTGCAGATTGGTTAACAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-5018_2108-5017insCAGAGTGCAGATTGGTTAACAAT
ENST00000367409.9:c.8069_8070insCAGAGTGCAGATTGGTTAACAAT MANE Select	ENSP00000356379.4:p.Ala2691ArgfsTer6
ENST00000680265.1:c.8069_8070insCAGAGTGCAGATTGGTTAACAAT	ENSP00000505384.1:p.Ala2691ArgfsTer6
ENST00000680710.1:c.8069_8070insCAGAGTGCAGATTGGTTAACAAT	ENSP00000506676.1:p.Ala2691ArgfsTer6
ENST00000294732.11:c.4066-5018_4066-5017insCAGAGTGCAGATTGGTTAACAAT	ENSP00000294732.7:n.4066-5018_4066-5017insCAGAGTGCAGATTGGTTAA...
ENST00000367408.5:c.1816-5018_1816-5017insCAGAGTGCAGATTGGTTAACAAT	ENSP00000356378.1:n.1816-5018_1816-5017insCAGAGTGCAGATTGGTTAA...
ENST00000367409.8:c.8069_8070insCAGAGTGCAGATTGGTTAACAAT	ENSP00000356379.4:p.Ala2691ArgfsTer6
ENST00000612785.1:c.2027_2028insCAGAGTGCAGATTGGTTAACAAT	ENSP00000479244.1:p.Ala677ArgfsTer6
NM_001206846.1:c.4066-5018_4066-5017insCAGAGTGCAGATTGGTTAACAAT	NP_001193775.1:n.4066-5018_4066-5017insCAGAGTGCAGATTGGTTAACAA...
NM_018136.4:c.8069_8070insCAGAGTGCAGATTGGTTAACAAT	NP_060606.3:p.Ala2691ArgfsTer6
NM_018136.5:c.8069_8070insCAGAGTGCAGATTGGTTAACAAT MANE Select	NP_060606.3:p.Ala2691ArgfsTer6
NM_001206846.2:c.4066-5018_4066-5017insCAGAGTGCAGATTGGTTAACAAT	NP_001193775.1:n.4066-5018_4066-5017insCAGAGTGCAGATTGGTTAACAA...