Canonical Allele Identifier: CA1310714
Gene: ASPM HGNC NCBI

Linked Data

dbSNP Id: rs763436954

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197142848_197142850del , CM000663.2:g.197142848_197142850del GRCh38
NC_000001.10:g.197111978_197111980del , CM000663.1:g.197111978_197111980del GRCh37
NC_000001.9:g.195378601_195378603del NCBI36
NG_015867.1:g.8848_8850del

Transcript Alleles

HGVS Amino-acid change
ENST00000367409.9:c.1405_1407del MANE Select ENSP00000356379.4:p.Asn469del
ENST00000679766.1:n.1622_1624del
ENST00000680265.1:c.1405_1407del ENSP00000505384.1:p.Asn469del
ENST00000680710.1:c.1405_1407del ENSP00000506676.1:p.Asn469del
ENST00000681879.1:c.1405_1407del ENSP00000505363.1:p.Asn469del
ENST00000294732.11:c.1405_1407del ENSP00000294732.7:p.Asn469del
ENST00000367409.8:c.1405_1407del ENSP00000356379.4:p.Asn469del
ENST00000612785.1:c.561+844_561+846del ENSP00000479244.1:n.561+844_561+846del
NM_001206846.1:c.1405_1407del NP_001193775.1:p.Asn469del
NM_018136.4:c.1405_1407del NP_060606.3:p.Asn469del
NM_018136.5:c.1405_1407del MANE Select NP_060606.3:p.Asn469del
NM_001206846.2:c.1405_1407del NP_001193775.1:p.Asn469del