Canonical Allele Identifier: CA1217929779
Gene: ASPM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197101043_197101046delinsTAAA , CM000663.2:g.197101043_197101046delinsTAAA GRCh38
NC_000001.10:g.197070173_197070176delinsTAAA , CM000663.1:g.197070173_197070176delinsTAAA GRCh37
NC_000001.9:g.195336796_195336799delinsTAAA NCBI36
NG_015867.1:g.50649_50652delinsTTTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.2108-4882_2108-4879delinsTTTA
ENST00000367409.9:c.8205_8208delinsTTTA MANE Select ENSP00000356379.4:p.Phe2735=
ENST00000680265.1:c.8205_8208delinsTTTA ENSP00000505384.1:p.Phe2735=
ENST00000680710.1:c.8205_8208delinsTTTA ENSP00000506676.1:p.Phe2735=
ENST00000294732.11:c.4066-4882_4066-4879delinsTTTA ENSP00000294732.7:n.4066-4882_4066-4879delinsTTTA
ENST00000367408.5:c.1816-4882_1816-4879delinsTTTA ENSP00000356378.1:n.1816-4882_1816-4879delinsTTTA
ENST00000367409.8:c.8205_8208delinsTTTA ENSP00000356379.4:p.Phe2735=
ENST00000612785.1:c.2163_2166delinsTTTA ENSP00000479244.1:p.Phe721=
NM_001206846.1:c.4066-4882_4066-4879delinsTTTA NP_001193775.1:n.4066-4882_4066-4879delinsTTTA
NM_018136.4:c.8205_8208delinsTTTA NP_060606.3:p.Phe2735=
NM_018136.5:c.8205_8208delinsTTTA MANE Select NP_060606.3:p.Phe2735=
NM_001206846.2:c.4066-4882_4066-4879delinsTTTA NP_001193775.1:n.4066-4882_4066-4879delinsTTTA