Canonical Allele Identifier: CA2740090289

Gene: ASPM

Linked Data

• ClinVar Variation Id: 3048651
• ClinVar RCV Id: RCV003956654

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197142649_197142656del , CM000663.2:g.197142649_197142656del	GRCh38
NC_000001.10:g.197111779_197111786del , CM000663.1:g.197111779_197111786del	GRCh37
NC_000001.9:g.195378402_195378409del	NCBI36
NG_015867.1:g.9042_9049del

Transcript Alleles

HGVS	Amino-acid change
ENST00000367409.9:c.1599_1606del MANE Select	ENSP00000356379.4:p.Asn533LysfsTer19
ENST00000679766.1:n.1816_1823del
ENST00000680265.1:c.1599_1606del	ENSP00000505384.1:p.Asn533LysfsTer19
ENST00000680710.1:c.1599_1606del	ENSP00000506676.1:p.Asn533LysfsTer19
ENST00000681879.1:c.1599_1606del	ENSP00000505363.1:p.Asn533LysfsTer19
ENST00000294732.11:c.1599_1606del	ENSP00000294732.7:p.Asn533LysfsTer19
ENST00000367409.8:c.1599_1606del	ENSP00000356379.4:p.Asn533LysfsTer19
ENST00000612785.1:c.561+1038_561+1045del	ENSP00000479244.1:n.561+1038_561+1045del
NM_001206846.1:c.1599_1606del	NP_001193775.1:p.Asn533LysfsTer19
NM_018136.4:c.1599_1606del	NP_060606.3:p.Asn533LysfsTer19
NM_018136.5:c.1599_1606del MANE Select	NP_060606.3:p.Asn533LysfsTer19
NM_001206846.2:c.1599_1606del	NP_001193775.1:p.Asn533LysfsTer19