Canonical Allele Identifier: CA645526310
Gene: ASPM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197143214_197143215del , CM000663.2:g.197143214_197143215del GRCh38
NC_000001.10:g.197112344_197112345del , CM000663.1:g.197112344_197112345del GRCh37
NC_000001.9:g.195378967_195378968del NCBI36
NG_015867.1:g.8481_8482del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367409.9:c.1038_1039del MANE Select ENSP00000356379.4:p.Asp346GlufsTer14
ENST00000679766.1:n.1255_1256del
ENST00000680265.1:c.1038_1039del ENSP00000505384.1:p.Asp346GlufsTer14
ENST00000680710.1:c.1038_1039del ENSP00000506676.1:p.Asp346GlufsTer14
ENST00000681879.1:c.1038_1039del ENSP00000505363.1:p.Asp346GlufsTer14
ENST00000294732.11:c.1038_1039del ENSP00000294732.7:p.Asp346GlufsTer14
ENST00000367409.8:c.1038_1039del ENSP00000356379.4:p.Asp346GlufsTer14
ENST00000612785.1:c.561+477_561+478del ENSP00000479244.1:n.561+477_561+478del
NM_001206846.1:c.1038_1039del NP_001193775.1:p.Asp346GlufsTer14
NM_018136.4:c.1038_1039del NP_060606.3:p.Asp346GlufsTer14
NM_018136.5:c.1038_1039del MANE Select NP_060606.3:p.Asp346GlufsTer14
NM_001206846.2:c.1038_1039del NP_001193775.1:p.Asp346GlufsTer14