Canonical Allele Identifier: CA1217930325
Gene: ASPM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197102518_197102519delinsAT , CM000663.2:g.197102518_197102519delinsAT GRCh38
NC_000001.10:g.197071648_197071649delinsAT , CM000663.1:g.197071648_197071649delinsAT GRCh37
NC_000001.9:g.195338271_195338272delinsAT NCBI36
NG_015867.1:g.49176_49177delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.2108-6355_2108-6354delinsAT
ENST00000367409.9:c.6732_6733delinsAT MANE Select ENSP00000356379.4:p.Ile2244=
ENST00000680265.1:c.6732_6733delinsAT ENSP00000505384.1:p.Ile2244=
ENST00000680710.1:c.6732_6733delinsAT ENSP00000506676.1:p.Ile2244=
ENST00000294732.11:c.4066-6355_4066-6354delinsAT ENSP00000294732.7:n.4066-6355_4066-6354delinsAT
ENST00000367408.5:c.1816-6355_1816-6354delinsAT ENSP00000356378.1:n.1816-6355_1816-6354delinsAT
ENST00000367409.8:c.6732_6733delinsAT ENSP00000356379.4:p.Ile2244=
ENST00000612785.1:c.690_691delinsAT ENSP00000479244.1:p.Ile230=
NM_001206846.1:c.4066-6355_4066-6354delinsAT NP_001193775.1:n.4066-6355_4066-6354delinsAT
NM_018136.4:c.6732_6733delinsAT NP_060606.3:p.Ile2244=
NM_018136.5:c.6732_6733delinsAT MANE Select NP_060606.3:p.Ile2244=
NM_001206846.2:c.4066-6355_4066-6354delinsAT NP_001193775.1:n.4066-6355_4066-6354delinsAT