Canonical Allele Identifier: CA1310628
Gene: ASPM HGNC NCBI

Linked Data

ClinVar Variation Id: 1939954
ClinVar RCV Id: RCV002658164
dbSNP Id: rs778684010

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197142342_197142344del , CM000663.2:g.197142342_197142344del GRCh38
NC_000001.10:g.197111472_197111474del , CM000663.1:g.197111472_197111474del GRCh37
NC_000001.9:g.195378095_195378097del NCBI36
NG_015867.1:g.9357_9359del

Transcript Alleles

HGVS Amino-acid change
ENST00000367409.9:c.1914_1916del MANE Select ENSP00000356379.4:p.Lys639del
ENST00000679766.1:n.2131_2133del
ENST00000680265.1:c.1914_1916del ENSP00000505384.1:p.Lys639del
ENST00000680710.1:c.1914_1916del ENSP00000506676.1:p.Lys639del
ENST00000681879.1:c.1914_1916del ENSP00000505363.1:p.Lys639del
ENST00000294732.11:c.1914_1916del ENSP00000294732.7:p.Lys639del
ENST00000367409.8:c.1914_1916del ENSP00000356379.4:p.Lys639del
ENST00000612785.1:c.561+1353_561+1355del ENSP00000479244.1:n.561+1353_561+1355del
NM_001206846.1:c.1914_1916del NP_001193775.1:p.Lys639del
NM_018136.4:c.1914_1916del NP_060606.3:p.Lys639del
NM_018136.5:c.1914_1916del MANE Select NP_060606.3:p.Lys639del
NM_001206846.2:c.1914_1916del NP_001193775.1:p.Lys639del