Canonical Allele Identifier: CA342241
Gene: ASPM HGNC NCBI

Linked Data

ClinVar Variation Id: 21576
ClinVar RCV Id: RCV000020766
dbSNP Id: rs199422156

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197122506_197122510del , CM000663.2:g.197122506_197122510del GRCh38
NC_000001.10:g.197091636_197091640del , CM000663.1:g.197091636_197091640del GRCh37
NC_000001.9:g.195358259_195358263del NCBI36
NG_015867.1:g.29186_29190del

Transcript Alleles

HGVS Amino-acid change
ENST00000367408.6:n.1519_1523del
ENST00000367409.9:c.3477_3481del MANE Select ENSP00000356379.4:p.Ala1160MetfsTer23
ENST00000680112.1:n.1533_1537del
ENST00000680265.1:c.3477_3481del ENSP00000505384.1:p.Ala1160MetfsTer23
ENST00000680710.1:n.3477_3481del ENSP00000506676.1:p.Ala1160MetfsTer23
ENST00000681879.1:n.3477_3481del ENSP00000505363.1:p.Ala1160MetfsTer23
ENST00000294732.11:c.3477_3481del ENSP00000294732.7:p.Ala1160MetfsTer23
ENST00000367408.5:c.1227_1231del ENSP00000356378.1:p.Ala410MetfsTer23
ENST00000367409.8:c.3477_3481del ENSP00000356379.4:p.Ala1160MetfsTer23
ENST00000612785.1:c.562-19862_562-19858del ENSP00000479244.1:n.562-19862_562-19858de...
NM_001206846.1:c.3477_3481del NP_001193775.1:p.Ala1160MetfsTer23
NM_018136.4:c.3477_3481del NP_060606.3:p.Ala1160MetfsTer23
NM_018136.5:c.3477_3481del MANE Select NP_060606.3:p.Ala1160MetfsTer23
NM_001206846.2:c.3477_3481del NP_001193775.1:p.Ala1160MetfsTer23