Canonical Allele Identifier: CA342222
Gene: ASPM HGNC NCBI

Linked Data

dbSNP Id: rs199422147

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197139838_197139841del , CM000663.2:g.197139838_197139841del GRCh38
NC_000001.10:g.197108968_197108971del , CM000663.1:g.197108968_197108971del GRCh37
NC_000001.9:g.195375591_195375594del NCBI36
NG_015867.1:g.11861_11864del

Transcript Alleles

HGVS Amino-acid change
ENST00000367409.9:c.1959_1962del MANE Select ENSP00000356379.4:p.Asn653LysfsTer14
ENST00000679766.1:n.2176_2179del
ENST00000680112.1:n.15_18del
ENST00000680265.1:c.1959_1962del ENSP00000505384.1:p.Asn653LysfsTer14
ENST00000680710.1:c.1959_1962del ENSP00000506676.1:p.Asn653LysfsTer14
ENST00000681879.1:c.1959_1962del ENSP00000505363.1:p.Asn653LysfsTer14
ENST00000294732.11:c.1959_1962del ENSP00000294732.7:p.Asn653LysfsTer14
ENST00000367409.8:c.1959_1962del ENSP00000356379.4:p.Asn653LysfsTer14
ENST00000612785.1:c.561+3857_561+3860del ENSP00000479244.1:n.561+3857_561+3860del
NM_001206846.1:c.1959_1962del NP_001193775.1:p.Asn653LysfsTer14
NM_018136.4:c.1959_1962del NP_060606.3:p.Asn653LysfsTer14
NM_018136.5:c.1959_1962del MANE Select NP_060606.3:p.Asn653LysfsTer14
NM_001206846.2:c.1959_1962del NP_001193775.1:p.Asn653LysfsTer14