Canonical Allele Identifier: CA1217930972
Gene: ASPM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197104210_197104211delinsCA , CM000663.2:g.197104210_197104211delinsCA GRCh38
NC_000001.10:g.197073340_197073341delinsCA , CM000663.1:g.197073340_197073341delinsCA GRCh37
NC_000001.9:g.195339963_195339964delinsCA NCBI36
NG_015867.1:g.47484_47485delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.2108-8047_2108-8046delinsTG
ENST00000367409.9:c.5040_5041delinsTG MANE Select ENSP00000356379.4:p.Asn1680=
ENST00000680265.1:c.5040_5041delinsTG ENSP00000505384.1:p.Asn1680=
ENST00000680710.1:c.5040_5041delinsTG ENSP00000506676.1:p.Asn1680=
ENST00000294732.11:c.4066-8047_4066-8046delinsTG ENSP00000294732.7:n.4066-8047_4066-8046delinsTG
ENST00000367408.5:c.1816-8047_1816-8046delinsTG ENSP00000356378.1:n.1816-8047_1816-8046delinsTG
ENST00000367409.8:c.5040_5041delinsTG ENSP00000356379.4:p.Asn1680=
ENST00000612785.1:c.562-1564_562-1563delinsTG ENSP00000479244.1:n.562-1564_562-1563delinsTG
NM_001206846.1:c.4066-8047_4066-8046delinsTG NP_001193775.1:n.4066-8047_4066-8046delinsTG
NM_018136.4:c.5040_5041delinsTG NP_060606.3:p.Asn1680=
NM_018136.5:c.5040_5041delinsTG MANE Select NP_060606.3:p.Asn1680=
NM_001206846.2:c.4066-8047_4066-8046delinsTG NP_001193775.1:n.4066-8047_4066-8046delinsTG