Canonical Allele Identifier: CA2747239627

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197093129_197093130insGTG , CM000663.2:g.197093129_197093130insGTG	GRCh38
NC_000001.10:g.197062259_197062260insGTG , CM000663.1:g.197062259_197062260insGTG	GRCh37
NC_000001.9:g.195328882_195328883insGTG	NCBI36
NG_015867.1:g.58565_58566insCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2503_2504insCAC
ENST00000367409.9:c.9216_9217insCAC MANE Select	ENSP00000356379.4:p.Glu3072_Arg3073insHis
ENST00000680265.1:c.9438_9439insCAC	ENSP00000505384.1:p.Glu3146_Arg3147insHis
ENST00000680710.1:c.9216_9217insCAC	ENSP00000506676.1:p.Glu3072_Arg3073insHis
ENST00000294732.11:c.4461_4462insCAC	ENSP00000294732.7:p.Glu1487_Arg1488insHis
ENST00000367408.5:c.2211_2212insCAC	ENSP00000356378.1:p.Glu737_Arg738insHis
ENST00000367409.8:c.9216_9217insCAC	ENSP00000356379.4:p.Glu3072_Arg3073insHis
ENST00000612785.1:c.3174_3175insCAC	ENSP00000479244.1:p.Glu1058_Arg1059insHis
NM_001206846.1:c.4461_4462insCAC	NP_001193775.1:p.Glu1487_Arg1488insHis
NM_018136.4:c.9216_9217insCAC	NP_060606.3:p.Glu3072_Arg3073insHis
NM_018136.5:c.9216_9217insCAC MANE Select	NP_060606.3:p.Glu3072_Arg3073insHis
NM_001206846.2:c.4461_4462insCAC	NP_001193775.1:p.Glu1487_Arg1488insHis