Canonical Allele Identifier: CA1217938532
Gene: ASPM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197122236_197122237delinsAC , CM000663.2:g.197122236_197122237delinsAC GRCh38
NC_000001.10:g.197091366_197091367delinsAC , CM000663.1:g.197091366_197091367delinsAC GRCh37
NC_000001.9:g.195357989_195357990delinsAC NCBI36
NG_015867.1:g.29458_29459delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000367408.6:n.1705_1706delinsGT
ENST00000367409.9:c.3663_3664delinsGT MANE Select ENSP00000356379.4:p.Arg1221=
ENST00000680112.1:n.1719_1720delinsGT
ENST00000680265.1:c.3663_3664delinsGT ENSP00000505384.1:p.Arg1221=
ENST00000680710.1:c.3663_3664delinsGT ENSP00000506676.1:p.Arg1221=
ENST00000681879.1:c.3663_3664delinsGT ENSP00000505363.1:p.Arg1221=
ENST00000294732.11:c.3663_3664delinsGT ENSP00000294732.7:p.Arg1221=
ENST00000367408.5:c.1413_1414delinsGT ENSP00000356378.1:p.Arg471=
ENST00000367409.8:c.3663_3664delinsGT ENSP00000356379.4:p.Arg1221=
ENST00000612785.1:c.562-19590_562-19589delinsGT ENSP00000479244.1:n.562-19590_562-19589delinsGT
NM_001206846.1:c.3663_3664delinsGT NP_001193775.1:p.Arg1221=
NM_018136.4:c.3663_3664delinsGT NP_060606.3:p.Arg1221=
NM_018136.5:c.3663_3664delinsGT MANE Select NP_060606.3:p.Arg1221=
NM_001206846.2:c.3663_3664delinsGT NP_001193775.1:p.Arg1221=