Canonical Allele Identifier: CA528535004

Gene: ASPM

Linked Data

• dbSNP Id: rs1307784413
• gnomAD v2: 1-197072691-TC-T
• gnomAD v4: 1-197103561-TC-T
• MyVariant Identifiers: chr1:g.197072692del (hg19) ; chr1:g.197103562del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197103564del , CM000663.2:g.197103564del	GRCh38
NC_000001.10:g.197072694del , CM000663.1:g.197072694del	GRCh37
NC_000001.9:g.195339317del	NCBI36
NG_015867.1:g.48133del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-7398del
ENST00000367409.9:c.5689del MANE Select	ENSP00000356379.4:p.Glu1897AsnfsTer6
ENST00000680265.1:c.5689del	ENSP00000505384.1:p.Glu1897AsnfsTer6
ENST00000680710.1:c.5689del	ENSP00000506676.1:p.Glu1897AsnfsTer6
ENST00000294732.11:c.4066-7398del	ENSP00000294732.7:n.4066-7398del
ENST00000367408.5:c.1816-7398del	ENSP00000356378.1:n.1816-7398del
ENST00000367409.8:c.5689del	ENSP00000356379.4:p.Glu1897AsnfsTer6
ENST00000612785.1:c.562-915del	ENSP00000479244.1:n.562-915del
NM_001206846.1:c.4066-7398del	NP_001193775.1:n.4066-7398del
NM_018136.4:c.5689del	NP_060606.3:p.Glu1897AsnfsTer6
NM_018136.5:c.5689del MANE Select	NP_060606.3:p.Glu1897AsnfsTer6
NM_001206846.2:c.4066-7398del	NP_001193775.1:n.4066-7398del