Canonical Allele Identifier: CA1217930472

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197102920_197102926delinsTTCTAAC , CM000663.2:g.197102920_197102926delinsTTCTAAC	GRCh38
NC_000001.10:g.197072050_197072056delinsTTCTAAC , CM000663.1:g.197072050_197072056delinsTTCTAAC	GRCh37
NC_000001.9:g.195338673_195338679delinsTTCTAAC	NCBI36
NG_015867.1:g.48769_48775delinsGTTAGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-6762_2108-6756delinsGTTAGAA
ENST00000367409.9:c.6325_6331delinsGTTAGAA MANE Select	ENSP00000356379.4:p.Val2109=
ENST00000680265.1:c.6325_6331delinsGTTAGAA	ENSP00000505384.1:p.Val2109=
ENST00000680710.1:c.6325_6331delinsGTTAGAA	ENSP00000506676.1:p.Val2109=
ENST00000294732.11:c.4066-6762_4066-6756delinsGTTAGAA	ENSP00000294732.7:n.4066-6762_4066-6756delinsGTTAGAA
ENST00000367408.5:c.1816-6762_1816-6756delinsGTTAGAA	ENSP00000356378.1:n.1816-6762_1816-6756delinsGTTAGAA
ENST00000367409.8:c.6325_6331delinsGTTAGAA	ENSP00000356379.4:p.Val2109=
ENST00000612785.1:c.562-279_562-273delinsGTTAGAA	ENSP00000479244.1:n.562-279_562-273delinsGTTAGAA
NM_001206846.1:c.4066-6762_4066-6756delinsGTTAGAA	NP_001193775.1:n.4066-6762_4066-6756delinsGTTAGAA
NM_018136.4:c.6325_6331delinsGTTAGAA	NP_060606.3:p.Val2109=
NM_018136.5:c.6325_6331delinsGTTAGAA MANE Select	NP_060606.3:p.Val2109=
NM_001206846.2:c.4066-6762_4066-6756delinsGTTAGAA	NP_001193775.1:n.4066-6762_4066-6756delinsGTTAGAA