Canonical Allele Identifier: CA342213
Gene: ASPM HGNC NCBI

Linked Data

dbSNP Id: rs199422137

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197143099_197143100del , CM000663.2:g.197143099_197143100del GRCh38
NC_000001.10:g.197112229_197112230del , CM000663.1:g.197112229_197112230del GRCh37
NC_000001.9:g.195378852_195378853del NCBI36
NG_015867.1:g.8597_8598del

Transcript Alleles

HGVS Amino-acid change
ENST00000367409.9:c.1154_1155del MANE Select ENSP00000356379.4:p.Glu385ValfsTer3
ENST00000679766.1:n.1371_1372del
ENST00000680265.1:c.1154_1155del ENSP00000505384.1:p.Glu385ValfsTer3
ENST00000680710.1:c.1154_1155del ENSP00000506676.1:p.Glu385ValfsTer3
ENST00000681879.1:c.1154_1155del ENSP00000505363.1:p.Glu385ValfsTer3
ENST00000294732.11:c.1154_1155del ENSP00000294732.7:p.Glu385ValfsTer3
ENST00000367409.8:c.1154_1155del ENSP00000356379.4:p.Glu385ValfsTer3
ENST00000612785.1:c.561+593_561+594del ENSP00000479244.1:n.561+593_561+594del
NM_001206846.1:c.1154_1155del NP_001193775.1:p.Glu385ValfsTer3
NM_018136.4:c.1154_1155del NP_060606.3:p.Glu385ValfsTer3
NM_018136.5:c.1154_1155del MANE Select NP_060606.3:p.Glu385ValfsTer3
NM_001206846.2:c.1154_1155del NP_001193775.1:p.Glu385ValfsTer3