Canonical Allele Identifier: CA1217945776
Gene: ASPM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197142792_197142795delinsGGTT , CM000663.2:g.197142792_197142795delinsGGTT GRCh38
NC_000001.10:g.197111922_197111925delinsGGTT , CM000663.1:g.197111922_197111925delinsGGTT GRCh37
NC_000001.9:g.195378545_195378548delinsGGTT NCBI36
NG_015867.1:g.8900_8903delinsAACC

Transcript Alleles

HGVS Amino-acid change
ENST00000367409.9:c.1457_1460delinsAACC MANE Select ENSP00000356379.4:p.Gln486=
ENST00000679766.1:n.1674_1677delinsAACC
ENST00000680265.1:c.1457_1460delinsAACC ENSP00000505384.1:p.Gln486=
ENST00000680710.1:c.1457_1460delinsAACC ENSP00000506676.1:p.Gln486=
ENST00000681879.1:c.1457_1460delinsAACC ENSP00000505363.1:p.Gln486=
ENST00000294732.11:c.1457_1460delinsAACC ENSP00000294732.7:p.Gln486=
ENST00000367409.8:c.1457_1460delinsAACC ENSP00000356379.4:p.Gln486=
ENST00000612785.1:c.561+896_561+899delinsAACC ENSP00000479244.1:n.561+896_561+899delinsAACC
NM_001206846.1:c.1457_1460delinsAACC NP_001193775.1:p.Gln486=
NM_018136.4:c.1457_1460delinsAACC NP_060606.3:p.Gln486=
NM_018136.5:c.1457_1460delinsAACC MANE Select NP_060606.3:p.Gln486=
NM_001206846.2:c.1457_1460delinsAACC NP_001193775.1:p.Gln486=