Canonical Allele Identifier: CA2747239626
Gene: ASPM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197093124_197093125insGTCA , CM000663.2:g.197093124_197093125insGTCA GRCh38
NC_000001.10:g.197062254_197062255insGTCA , CM000663.1:g.197062254_197062255insGTCA GRCh37
NC_000001.9:g.195328877_195328878insGTCA NCBI36
NG_015867.1:g.58570_58571insTGAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.2508_2509insTGAC
ENST00000367409.9:c.9221_9222insTGAC MANE Select ENSP00000356379.4:p.Lys3075AspfsTer5
ENST00000680265.1:c.9443_9444insTGAC ENSP00000505384.1:p.Lys3149AspfsTer5
ENST00000680710.1:c.9221_9222insTGAC ENSP00000506676.1:p.Lys3075AspfsTer5
ENST00000294732.11:c.4466_4467insTGAC ENSP00000294732.7:p.Lys1490AspfsTer5
ENST00000367408.5:c.2216_2217insTGAC ENSP00000356378.1:p.Lys740AspfsTer5
ENST00000367409.8:c.9221_9222insTGAC ENSP00000356379.4:p.Lys3075AspfsTer5
ENST00000612785.1:c.3179_3180insTGAC ENSP00000479244.1:p.Lys1061AspfsTer5
NM_001206846.1:c.4466_4467insTGAC NP_001193775.1:p.Lys1490AspfsTer5
NM_018136.4:c.9221_9222insTGAC NP_060606.3:p.Lys3075AspfsTer5
NM_018136.5:c.9221_9222insTGAC MANE Select NP_060606.3:p.Lys3075AspfsTer5
NM_001206846.2:c.4466_4467insTGAC NP_001193775.1:p.Lys1490AspfsTer5