Canonical Allele Identifier: CA729751463

Gene: ASPM

Linked Data

• dbSNP Id: rs1346233085
• gnomAD v4: 1-197101043-TAAA-T
• MyVariant Identifiers: chr1:g.197070174_197070176del (hg19) ; chr1:g.197101044_197101046del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197101046_197101048del , CM000663.2:g.197101046_197101048del	GRCh38
NC_000001.10:g.197070176_197070178del , CM000663.1:g.197070176_197070178del	GRCh37
NC_000001.9:g.195336799_195336801del	NCBI36
NG_015867.1:g.50649_50651del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-4882_2108-4880del
ENST00000367409.9:c.8205_8207del MANE Select	ENSP00000356379.4:p.Phe2735del
ENST00000680265.1:c.8205_8207del	ENSP00000505384.1:p.Phe2735del
ENST00000680710.1:c.8205_8207del	ENSP00000506676.1:p.Phe2735del
ENST00000294732.11:c.4066-4882_4066-4880del	ENSP00000294732.7:n.4066-4882_4066-4880del
ENST00000367408.5:c.1816-4882_1816-4880del	ENSP00000356378.1:n.1816-4882_1816-4880del
ENST00000367409.8:c.8205_8207del	ENSP00000356379.4:p.Phe2735del
ENST00000612785.1:c.2163_2165del	ENSP00000479244.1:p.Phe721del
NM_001206846.1:c.4066-4882_4066-4880del	NP_001193775.1:n.4066-4882_4066-4880del
NM_018136.4:c.8205_8207del	NP_060606.3:p.Phe2735del
NM_018136.5:c.8205_8207del MANE Select	NP_060606.3:p.Phe2735del
NM_001206846.2:c.4066-4882_4066-4880del	NP_001193775.1:n.4066-4882_4066-4880del