Canonical Allele Identifier: CA528534957

Gene: ASPM

Linked Data

• dbSNP Id: rs1359916474
• gnomAD v2: 1-197070145-G-GAAT
• gnomAD v4: 1-197101015-G-GAAT
• MyVariant Identifiers: chr1:g.197070145_197070146insAAT (hg19) ; chr1:g.197101015_197101016insAAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197101017_197101019dup , CM000663.2:g.197101017_197101019dup	GRCh38
NC_000001.10:g.197070147_197070149dup , CM000663.1:g.197070147_197070149dup	GRCh37
NC_000001.9:g.195336770_195336772dup	NCBI36
NG_015867.1:g.50677_50679dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-4854_2108-4852dup
ENST00000367409.9:c.8233_8235dup MANE Select	ENSP00000356379.4:p.Ile2745_Gln2746insIle
ENST00000680265.1:c.8233_8235dup	ENSP00000505384.1:p.Ile2745_Gln2746insIle
ENST00000680710.1:c.8233_8235dup	ENSP00000506676.1:p.Ile2745_Gln2746insIle
ENST00000294732.11:c.4066-4854_4066-4852dup	ENSP00000294732.7:n.4066-4854_4066-4852dup
ENST00000367408.5:c.1816-4854_1816-4852dup	ENSP00000356378.1:n.1816-4854_1816-4852dup
ENST00000367409.8:c.8233_8235dup	ENSP00000356379.4:p.Ile2745_Gln2746insIle
ENST00000612785.1:c.2191_2193dup	ENSP00000479244.1:p.Ile731_Gln732insIle
NM_001206846.1:c.4066-4854_4066-4852dup	NP_001193775.1:n.4066-4854_4066-4852dup
NM_018136.4:c.8233_8235dup	NP_060606.3:p.Ile2745_Gln2746insIle
NM_018136.5:c.8233_8235dup MANE Select	NP_060606.3:p.Ile2745_Gln2746insIle
NM_001206846.2:c.4066-4854_4066-4852dup	NP_001193775.1:n.4066-4854_4066-4852dup