Canonical Allele Identifier: CA1217945457
Gene: ASPM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197142579_197142581delinsTAA , CM000663.2:g.197142579_197142581delinsTAA GRCh38
NC_000001.10:g.197111709_197111711delinsTAA , CM000663.1:g.197111709_197111711delinsTAA GRCh37
NC_000001.9:g.195378332_195378334delinsTAA NCBI36
NG_015867.1:g.9114_9116delinsTTA

Transcript Alleles

HGVS Amino-acid change
ENST00000367409.9:c.1671_1673delinsTTA MANE Select ENSP00000356379.4:p.Ser557=
ENST00000679766.1:n.1888_1890delinsTTA
ENST00000680265.1:c.1671_1673delinsTTA ENSP00000505384.1:p.Ser557=
ENST00000680710.1:c.1671_1673delinsTTA ENSP00000506676.1:p.Ser557=
ENST00000681879.1:c.1671_1673delinsTTA ENSP00000505363.1:p.Ser557=
ENST00000294732.11:c.1671_1673delinsTTA ENSP00000294732.7:p.Ser557=
ENST00000367409.8:c.1671_1673delinsTTA ENSP00000356379.4:p.Ser557=
ENST00000612785.1:c.561+1110_561+1112delinsTTA ENSP00000479244.1:n.561+1110_561+1112deli...
NM_001206846.1:c.1671_1673delinsTTA NP_001193775.1:p.Ser557=
NM_018136.4:c.1671_1673delinsTTA NP_060606.3:p.Ser557=
NM_018136.5:c.1671_1673delinsTTA MANE Select NP_060606.3:p.Ser557=
NM_001206846.2:c.1671_1673delinsTTA NP_001193775.1:p.Ser557=