Canonical Allele Identifier: CA2739275495

Gene: ASPM

Linked Data

• ClinVar Variation Id: 2814886
• ClinVar RCV Id: RCV003683144

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197142645_197142649del , CM000663.2:g.197142645_197142649del	GRCh38
NC_000001.10:g.197111775_197111779del , CM000663.1:g.197111775_197111779del	GRCh37
NC_000001.9:g.195378398_195378402del	NCBI36
NG_015867.1:g.9046_9050del

Transcript Alleles

HGVS	Amino-acid change
ENST00000367409.9:c.1603_1607del MANE Select	ENSP00000356379.4:p.Gln535GlyfsTer18
ENST00000679766.1:n.1820_1824del
ENST00000680265.1:c.1603_1607del	ENSP00000505384.1:p.Gln535GlyfsTer18
ENST00000680710.1:c.1603_1607del	ENSP00000506676.1:p.Gln535GlyfsTer18
ENST00000681879.1:c.1603_1607del	ENSP00000505363.1:p.Gln535GlyfsTer18
ENST00000294732.11:c.1603_1607del	ENSP00000294732.7:p.Gln535GlyfsTer18
ENST00000367409.8:c.1603_1607del	ENSP00000356379.4:p.Gln535GlyfsTer18
ENST00000612785.1:c.561+1042_561+1046del	ENSP00000479244.1:n.561+1042_561+1046del
NM_001206846.1:c.1603_1607del	NP_001193775.1:p.Gln535GlyfsTer18
NM_018136.4:c.1603_1607del	NP_060606.3:p.Gln535GlyfsTer18
NM_018136.5:c.1603_1607del MANE Select	NP_060606.3:p.Gln535GlyfsTer18
NM_001206846.2:c.1603_1607del	NP_001193775.1:p.Gln535GlyfsTer18