Canonical Allele Identifier: CA1217930729

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197103565_197103570delinsTTCTAA , CM000663.2:g.197103565_197103570delinsTTCTAA	GRCh38
NC_000001.10:g.197072695_197072700delinsTTCTAA , CM000663.1:g.197072695_197072700delinsTTCTAA	GRCh37
NC_000001.9:g.195339318_195339323delinsTTCTAA	NCBI36
NG_015867.1:g.48125_48130delinsTTAGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-7406_2108-7401delinsTTAGAA
ENST00000367409.9:c.5681_5686delinsTTAGAA MANE Select	ENSP00000356379.4:p.Ile1894=
ENST00000680265.1:c.5681_5686delinsTTAGAA	ENSP00000505384.1:p.Ile1894=
ENST00000680710.1:c.5681_5686delinsTTAGAA	ENSP00000506676.1:p.Ile1894=
ENST00000294732.11:c.4066-7406_4066-7401delinsTTAGAA	ENSP00000294732.7:n.4066-7406_4066-7401delinsTTAGAA
ENST00000367408.5:c.1816-7406_1816-7401delinsTTAGAA	ENSP00000356378.1:n.1816-7406_1816-7401delinsTTAGAA
ENST00000367409.8:c.5681_5686delinsTTAGAA	ENSP00000356379.4:p.Ile1894=
ENST00000612785.1:c.562-923_562-918delinsTTAGAA	ENSP00000479244.1:n.562-923_562-918delinsTTAGAA
NM_001206846.1:c.4066-7406_4066-7401delinsTTAGAA	NP_001193775.1:n.4066-7406_4066-7401delinsTTAGAA
NM_018136.4:c.5681_5686delinsTTAGAA	NP_060606.3:p.Ile1894=
NM_018136.5:c.5681_5686delinsTTAGAA MANE Select	NP_060606.3:p.Ile1894=
NM_001206846.2:c.4066-7406_4066-7401delinsTTAGAA	NP_001193775.1:n.4066-7406_4066-7401delinsTTAGAA